Skeletal dysplasia (Version 1.0)

Description

This panel contains genes associated with skeletal dysplasias.

It has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).

Depending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.

Panel Activity

39 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Andrew Fennell (Monash Genetics)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Healius Pathology)
Arina Puzriakova (Genomics England)
Danielle Ariti (University of Melbourne)
Manny Jacobs (Victorian Clinical Genetics Services)
Sarah Leigh (Genomics England)
Ain Roesley (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

656 Entities

632 reviewed, 486 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 656 Entitiess
Green Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Hypertrichotic osteochondrodysplasia 239850 Tags
Green Green List (high evidence)	ABL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Disease associations Congenital heart defects and skeletal malformations syndrome, 617602 Tags
Green Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Spondyloepiphyseal dysplasia, Kimberley type 608361 Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800 Spondyloepimetaphyseal dysplasia, aggrecan type 61283 Tags
Green Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spondyloenchondrodysplasia with immune dysregulation MIM#607944 Tags
Green Green List (high evidence)	ACVR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Weill-Marchesani syndrome 1, recessive, 277600 Tags
Green Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Weill-Marchesani syndrome type 4 MIM# 613195 Tags
Green Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Geleophysic dysplasia 1 MIM#231050 Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AFF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Disease associations CHOPS syndrome MIM#616368 Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata, type 3 600121 Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Tags
Green Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ig 607143 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Id 601110 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Gillessen-Kaesbach-Nishimura syndrome 263210 Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210 Tags
Green Green List (high evidence)	ALPL	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green Green List (high evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Frontonasal dysplasia 3 613456 Frontonasal dysplasia type 3 613456 Tags
Green Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Frontonasal dysplasia 1 136760 Frontonasal dysplasia 1 136760 (frontorhiny) Tags
Green Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Frontonasal dysplasia 2 613451 Tags
Green Green List (high evidence)	AMER1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteopathia striata with cranial sclerosis, MIM# 300373 Tags
Green Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Chondrocalcinosis 2 118600 Craniometaphyseal dysplasia 123000 Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations KBG syndrome 148050 Tags
Green Green List (high evidence)	ANO5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Disproportionate Short Stature Osteogenesis Imperfecta and Decreased Bone Density Gnatodiaphyseal dysplasia skeletal dysplasias Tags
Green Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Hyaline fibromatosis syndrome 228600 Tags
Green Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Tags
Green Green List (high evidence)	ARHGAP31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Genetic Health Queensland Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 1 100300 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Coffin-Siris Tags
Green Green List (high evidence)	ARID1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Coffin-Siris syndrome type 1 - 135900 Coffin-Siris Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet-Biedl syndrome 3 600151 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mucopolysaccharidosis MONDO:0019249, ARSK-related Tags
Green Green List (high evidence)	ARSL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Chondrodysplasia punctata, X-linked recessive, 302950 CDPXL Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Bohring-Opitz syndrome 605039 Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Shashi-Pena syndrome 617190 Shashi-Pena syndrome 617190 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Cutis laxa, autosomal recessive, type IIA 219200 Cutis laxa, autosomal recessive, type IIA 219200 Tags
Green Green List (high evidence)	ATP7A	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Seckel syndrome 1, MIM# 210600 Tags
Green Green List (high evidence)	AXIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Larsen alike phenotype (skd incl) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	B4GALT7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome with short stature and limb anomalies 130070 Tags
Green Green List (high evidence)	B9D1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ciliopathy, MONDO:0005308, B9D1-related Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet-Biedl syndrome 1 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet Biedl syndrome 10, 615987 Polydactyly Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet Biedl syndrome 12, 615989 Polydactyly Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet-Biedl syndrome 2, 615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 4, 615982 Polydactyly Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet Biedl syndrome 5, 615983 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 7, 615984 Polydactyly Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet Biedl syndrome 9, 615986 Tags
Green Green List (high evidence)	BGN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Literature Disease associations Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106 Tags
Green Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 Tags
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XIII, 614856 Tags
Green Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations {HFE hemochromatosis, modifier of} 235200 short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Diaphanospondylodysostosis 608022 Tags
Green Green List (high evidence)	BMPR1B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Brachydactyly, type A1, D 616849 Acromesomelic dysplasia, Demirhan type 609441 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	BPNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Chondrodysplasia with joint dislocations, GPAPP type 614078 Tags
Green Green List (high evidence)	C2CD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations Orofaciodigital syndrome XIV 615948 Tags
Green Green List (high evidence)	CA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450 Tags
Green Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 Hypocalcemia, autosomal dominant 601198 Hyperparathyroidism, neonatal 239200 Hypocalciuric hypercalcemia, type I 145980 Tags
Green Green List (high evidence)	CBFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations cleidocranial dysplasia (MONDO#0007340), CBFB-related Tags
Green Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 6 612284 Tags
Green Green List (high evidence)	CCDC134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteogenesis imperfecta, type XXII, MIM#619795 Tags
Green Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations 3-M syndrome 3, 614205 Tags
Green Green List (high evidence)	CCN6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Arthropathy, progressive pseudorheumatoid, of childhood 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 Tags new gene name
Green Green List (high evidence)	CCNQ	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Disease associations STAR syndrome 300707 STAR syndrome 300707 Tags
Green Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations Craniosynostosis (Wilkie) (from Ana Beleza) Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) Tags
Green Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations IMAGE syndrome 614732 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meier-Gorlin syndrome 4 613804 Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 14 615991 Leber congenital amaurosis 10 Joubert syndrome 5 610188 Meckel syndrome 4 611134 Senior-Loken syndrome 6 610189 Tags
Green Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Seckel syndrome 11, OMIM # 620767 Tags
Green Green List (high evidence)	CFAP410	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Axial Spondylometaphyseal Dysplasia 602271 Spondylometaphyseal dysplasia, axial 602271 Tags
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CILK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Endocrine-cerebroosteodysplasia 612651 Tags
Green Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Nephrolithiasis, type I 310468 Dent disease 300009 Hypophosphatemic rickets 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 4 611490 Osteopetrosis, autosomal dominant 2 166600 Tags treatable
Green Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIg 611209 Tags
Green Green List (high evidence)	COG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Saul-Wilson syndrome, OMIM #618150 Tags
Green Green List (high evidence)	COL10A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Metaphyseal chondrodysplasia, Schmid type 156500 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Stickler syndrome, type II 604841 Fibrochondrogenesis 1 228520 Marshall syndrome 154780 Tags
Green Green List (high evidence)	COL11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Fibrochondrogenesis 2 614524? Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524 Weissenbacher-Zweymuller syndrome 277610 Stickler syndrome, type III 184840 Tags
Green Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Ehlers-Danlos syndrome, type VIIA 130060 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type I 166200 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, classic 130000 Caffey disease 114000 Osteogenesis imperfecta, type II 166210 Tags
Green Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, type VIIB 130060 Ehlers-Danlos syndrome, cardiac valvular form 225320 Osteogenesis imperfecta, type II 166210 Tags
Green Green List (high evidence)	COL27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations OMIM #615155 Steel Syndrome Tags
Green Green List (high evidence)	COL2A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Osteoarthritis with mild chondrodysplasia 604864 Czech dysplasia 609162 SMED Strudwick type 184250 Spondyloepiphyseal dysplasia, Stanescu type 616583 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 SED congenita 183900 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 Stickler sydrome, type I, nonsyndromic ocular 609508 Kniest dysplasia 156550 Platyspondylic skeletal dysplasia, Torrance type 151210 Spondyloperipheral dysplasia 271700 Achondrogenesis, type II or hypochondrogenesis 200610 Legg-Calve-Perthes disease 150600 Avascular necrosis of the femoral head 608805 Tags
Green Green List (high evidence)	COL9A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Stickler syndrome, type IV 614134 Epiphyseal dysplasia, multiple, 6 614135 Tags
Green Green List (high evidence)	COL9A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Stickler syndrome, type V, 614284 Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V 614284 {Intervertebral disc disease, susceptibility to}, 603932 Tags
Green Green List (high evidence)	COL9A3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Victorian Clinical Genetics Services Disease associations MED Mutiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Dominant Epiphyseal dysplasia, multiple, with myopathy Stickler syndrome type VI multiple epiphyseal dysplasia multiple epiphyseal dysplasia 3, with or without myopathy - 600969 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations 3MC syndrome 2 265050 Tags
Green Green List (high evidence)	COMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Disease associations Epiphyseal dysplasia, multiple, 1 132400 Pseudoachondroplasia 177170 Tags
Green Green List (high evidence)	COMP_MEDPSACH_GAC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epiphyseal dysplasia, multiple, 1 MIM#132400 Pseudoachondroplasia MIM#177170 Tags paediatric-onset
Green Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Disease associations Osteogenesis imperfecta, type XVI 616229 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Rubinstein-Taybi syndrome 180849 Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	CRIPT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Osteogenesis imperfecta, type VII 610682 Tags
Green Green List (high evidence)	CSF1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS Tags
Green Green List (high evidence)	CSGALNACT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations ORPHA:475 Joubert syndrome Joubert syndrome 21 615636 ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome 21 615636 ORPHA:564 Meckel syndrome Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Galactosialidosis 256540 Tags
Green Green List (high evidence)	CTSC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Haim-Munk syndrome 245010, Haim-Munk syndrome 245010 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Pycnodysostosis 265800 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Tags
Green Green List (high evidence)	CYP26B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Disease associations Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Tags
Green Green List (high evidence)	CYP27B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Vitamin D-dependent rickets, type I 264700 Tags
Green Green List (high evidence)	CYP2R1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Rickets due to defect in vitamin D 25-hydroxylation, 600081 Tags
Green Green List (high evidence)	DCC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542 Tags
Green Green List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green NHS GMS Disease associations Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077 Tags
Green Green List (high evidence)	DDRGK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 Tags founder
Green Green List (high evidence)	DHCR24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DHODH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Perlman syndrome 267000 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Spondylocostal dysostosis 1, autosomal recessive 277300 Tags
Green Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 6, 616589 Tags
Green Green List (high evidence)	DLX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Tricho-dento-osseous syndrome, MONDO:0008592 Tags
Green Green List (high evidence)	DLX5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Tags
Green Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Acromesomelic dysplasia, Hunter-Thompson type, 201250 Symphalangism, proximal, 1B, 615298 Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1) Brachydactyly, type A1, C, 615072 Brachydactyly, type A2, 112600 Du Pan syndrome, 228900 Hypophosphatemic rickets, AR, 241520 Osteogenesis Imperfecta and Decreased Bone Density Chondrodysplasia, Grebe type, 200700 skeletal dysplasias Brachydactyly, type C, 113100 {Osteoarthritis-5}, 612400 Multiple synostoses syndrome 2, 610017 Tags
Green Green List (high evidence)	DMRT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 Tags
Green Green List (high evidence)	DNA2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Rothmund-Thomson syndrome, type 4, MIM# 620819 Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 617052 BONE MARROW FAILURE SYNDROME 3 BMFS3 Tags
Green Green List (high evidence)	DNMT3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Disease associations Heyn-Sproul-Jackson syndrome, MIM# 618724 Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 2 614219 Adams-Oliver syndrome 2 614219 Tags
Green Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Microcephaly, short stature, and limb abnormalities, MIM# 617604 Microcephaly-micromelia syndrome, MIM# 251230 Meier-Gorlin syndrome 10, MIM# 621528 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Congenital disorder of glycosylation, type Ie 608799 Tags
Green Green List (high evidence)	DVL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Robinow syndrome, autosomal dominant 2, MIM# 616331 Tags
Green Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Smith-McCort dysplasia 607326 Dyggve-Melchior-Clausen disease 223800 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff) Tags
Green Green List (high evidence)	DYNC2I1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 8 with or without polydactyly 615503 Tags
Green Green List (high evidence)	DYNC2I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags
Green Green List (high evidence)	DYNC2LI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations SRTD15 #617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY Tags
Green Green List (high evidence)	DYNLT2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 Tags
Green Green List (high evidence)	EBP	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations MEND syndrome CDPXLD MEND syndrome-300960 XLR. X-linked dominant chondrodysplasia punctata Chondrodysplasia punctata, X-linked dominant, 302960 Tags
Green Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Cohen-Gibson syndrome 617561 Cohen-Gibson syndrome 617561 Tags
Green Green List (high evidence)	EFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 617941 SHWACHMAN-DIAMOND SYNDROME 2 SDS2 Tags
Green Green List (high evidence)	EFTUD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Wolcott-Rallison syndrome 226980 Wolcott-Rallison syndrome 226980 Tags
Green Green List (high evidence)	EN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ENDOVE syndrome, limb-only type, MIM# 619217 ENDOVE syndrome, limb-brain type, MIM# 619218 Tags 5'UTR SV/CNV
Green Green List (high evidence)	ENPP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Cole disease 615522 Arterial calcification, generalized, of infancy, 1 208000 Hypophosphatemic rickets, autosomal recessive, 2 613312 Tags
Green Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations Adams Oliver syndrome 4 Tags
Green Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Craniosynostosis 4 600775 Chitayat syndrome - 617180 Tags
Green Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green Green List (high evidence)	EVC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ellis-van Creveld syndrome, 225500 ECV1 Ellis-van Creveld Syndrome Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 Tags
Green Green List (high evidence)	EVC2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ellis-van Creveld syndrome 225500 Weyers acrofacial dysostosis 193530 Tags
Green Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675 Tags
Green Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations trichorhinophalangeal syndrome type 2 -150230 Exostoses, multiple, type 13370 Exostoses, multiple, type 1 133700 Tags
Green Green List (high evidence)	EXT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Exostoses, multiple, type 2 133701 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Tags
Green Green List (high evidence)	EZH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Weaver syndrome Tags
Green Green List (high evidence)	FAM111A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000 Tags
Green Green List (high evidence)	FAM20B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Desbuquois dysplasia MONDO:0015426 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Raine syndrome 259775 Tags
Green Green List (high evidence)	FBN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Stiff skin syndrome 184900 Marfan syndrome 154700 Geleophysic dysplasia 2 614185 Weill-Marchesani syndrome 2, dominant 608328 Acromicric dysplasia 102370 Tags
Green Green List (high evidence)	FBN2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Contractural arachnodactyly, congenital 121050 Tags
Green Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22. Leukocyte adhesion deficiency, type III 612840 Tags
Green Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations LADD syndrome 149730 Tags
Green Green List (high evidence)	FGF16	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Metacarpal 4-5 fusion 309630 Metacarpal 4-5 fusion 309630 Tags
Green Green List (high evidence)	FGF23	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial 211900 Hypophosphatemic rickets, autosomal dominant 193100 Tags
Green Green List (high evidence)	FGF9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Multiple synostoses syndrome type 3 612961 Tags
Green Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Hartsfield syndrome 615465 Osteoglophonic dysplasia 166250 Pfeiffer syndrome 101600 Encephalocraniocutaneous lipomatosis, somatic mosaism 613001 Jackson-Weiss syndrome 123150 Trigonocephaly 1 190440 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Craniosynostosis, nonspecific Crouzon syndrome 123500 Pfeiffer syndrome 101600 Beare-Stevenson cutis gyrata syndrome 123790 Apert syndrome 101200 Gastric cancer, somatic 613659 Craniofacial-skeletal-dermatologic dysplasia 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Bent bone dysplasia syndrome 614592 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Crouzon syndrome with acanthosis nigricans 612247 Thanatophoric dysplasia, type II 187601 Thanatophoric dysplasia, type I 187600 SADDAN 616482 LADD syndrome 149730 Achondroplasia 100800 Hypochondroplasia 146000 Muenke syndrome 602849 CATSHL syndrome 610474 Tags
Green Green List (high evidence)	FIG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Yunis-Varon syndrome 216340 Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XI, 610968 Brucks syndrome 1 - 259450 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias Osteogenesis Imperfecta, Recessive Brucks syndrome Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Disease associations Frontometaphyseal dysplasia 305620 Otopalatodigital syndrome, type II -304120 Osteodysplasty Melnick Needles 309350 XLD Melnick Needles syndrome 309350 Otopalatodigital syndrome, type II 304120 XLD Frontometaphyseal dysplasia 305620 XLR Terminal osseous dysplasia 300244 Otopalatodigital syndrome, type I -311300 Tags
Green Green List (high evidence)	FLNB	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Atelosteogenesis, type I 108720 Spondylocarpotarsal synostosis syndrome 272460 Larsen syndrome 150250 Boomerang dysplasia 112310 Atelosteogenesis, type III 108721 Tags
Green Green List (high evidence)	FN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Spondylometaphyseal dysplasia, corner fracture type 184255 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Fucosidosis 230000 Tags
Green Green List (high evidence)	FUZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green Green List (high evidence)	FZD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Autosomal dominant omodysplasia type 2 164745 Autosomal dominant omodysplasia 164745 Tags
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags treatable
Green Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Tumoral calcinosis, hyperphosphatemic, familial I 211900 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900 Tags
Green Green List (high evidence)	GDF5	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Chondrodysplasia, Grebe type 200700 Multiple synostoses syndrome 2 610017 Du Pan syndrome 228900 Acromesomelic dysplasia, Hunter-Thompson type 201250 Brachydactyly, type C 113100 Brachydactyly, type A1, C 615072 Symphalangism, proximal, 1B 615298 {Osteoarthritis-5} 612400 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	GDF6	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898. Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations increased responsiveness to growth hormone 604271 {Hypercholesterolemia, familial, modification of}, 143890 Short stature, 604271 Proportionate Short Stature/Small for Gestational Age Growth hormone insensitivity Increased responsiveness to growth hormone Laron dwarfism, 262500 Tags
Green Green List (high evidence)	GHRHR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations isolated growth hormone deficiency type IB MONDO:0013006 Tags
Green Green List (high evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Meier-Gorlin syndrome 9, MIM# 621512 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Oculodentodigital dysplasia 164200 Erythrokeratodermia variabilis et progressiva 133200 Palmoplantar keratoderma with congenital alopecia 104100 Hypoplastic left heart syndrome 1 241550 Oculodentodigital dysplasia, autosomal recessive 257850 Craniometaphyseal dysplasia, autosomal recessive 218400 Syndactyly, type III 186100 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations GM1-gangliosidosis, type II 230600 GM1-gangliosidosis, type III 230650 Mucopolysaccharidosis type IVB (Morquio) 253010 GM1-gangliosidosis, type I 230500 Tags
Green Green List (high evidence)	GLI3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations {Hypothalamic hamartomas, somatic} 241800 Polydactyly, postaxial, types A1 and B 174200 Greig cephalopolysyndactyly syndrome 175700 Pallister-Hall syndrome 146510 Polydactyly, preaxial, type IV 174700 Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Pseudohypoparathyroidism Ia 103580 ACTH-independent macronodular adrenal hyperplasia 219080 IC Pseudohypoparathyroidism Ib 603233 Pseudopseudohypoparathyroidism 612463 McCune-Albright syndrome, somatic, mosaic 174800 Pseudohypoparathyroidism Ic 612462 Osseous heteroplasia, progressive 166350 Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations RCDP2 Rhizomelic Chondrodysplasia Punctata Rhizomelic chondrodysplasia punctata type 2 Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Green Green List (high evidence)	GNPNAT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Tags
Green Green List (high evidence)	GNPTAB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations GNPTAB-mucolipidosis MONDO:0100122 Mucolipidosis II alpha/beta, MIM# 252500 Mucolipidosis III alpha/beta, MIM# 252600 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucolipidosis III gamma 252605 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIID 252940 Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Geroderma osteodysplasticum 231070 Tags
Green Green List (high evidence)	GPC6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Omodysplasia 1 MIM#258315 Tags SV/CNV
Green Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Tags
Green Green List (high evidence)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis VII 253220 Tags
Green Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Disease associations Joint laxity, short stature, and myopia, MIM# 617662 Larsen-like syndrome Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Cornelia de Lange syndrome 5 300882 Wilson-Turner syndrome 309585 Tags
Green Green List (high evidence)	HES7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spondylocostal dysostosis 4, autosomal recessive 613686 Tags
Green Green List (high evidence)	HGSNAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 Tags
Green Green List (high evidence)	HHAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Guttmacher syndrome 176305 Hand-foot-uterus syndrome 140000 Hand-foot-genital syndrome 140000 Tags
Green Green List (high evidence)	HOXA13_HFGS_GCN3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Brachydactyly, type E 113300 Brachydactyly, type D 113200 Syndactyly, type V 186300 Synpolydactyly 1 186000 Brachydactyly-syndactyly syndrome 610713 Tags
Green Green List (high evidence)	HOXD13_SPD1_GCG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Synpolydactyly 1 MIM#186000 Tags paediatric-onset
Green Green List (high evidence)	HPGD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Digital clubbing, isolated congenital 119900 Cranioosteoarthropathy 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Tags
Green Green List (high evidence)	HSPG2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Dyssegmental dysplasia, Silverman-Handmaker type 224410 Schwartz-Jampel syndrome, type 1 255800 Tags
Green Green List (high evidence)	HYLS1	4 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Hydrolethalus syndrome MIM#236680 Tags
Green Green List (high evidence)	IDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Ollier disease/ Dyschondroplasia 166000 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 Maffucci syndrome 614569 Tags
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis II 309900 Tags
Green Green List (high evidence)	IDUA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015 Mucopolysaccharidosis Ih 607014 Tags
Green Green List (high evidence)	IFIH1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Singleton-Merten syndrome 1, 182250 Tags
Green Green List (high evidence)	IFITM5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Osteogenesis imperfecta, type V MIM#610967 Tags 5'UTR
Green Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Cranioectodermal dysplasia 1 218330 Tags
Green Green List (high evidence)	IFT140	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Tags
Green Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 SRTD10 Tags
Green Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 18 with polydactyly - 617866 ?Cranioectodermal dysplasia 3 - 614099 Tags
Green Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Jeune syndrome (MONDO:0018770), IFT74-related Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 2 with or without polydactyly 611263 Tags
Green Green List (high evidence)	IFT81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Disease associations Short-rib thoracic dysplasia 19 with or without polydactyly -617895 Short-Rib Polydactyly Syndrome Tags
Green Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Acrocapitofemoral dysplasia 607778 Brachydactyly, type A1 112500 Tags
Green Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Incontinentia pigmenti 308300 Tags
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Craniosynostosis and dental anomalies 614188 Tags
Green Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations Interleukin 1 receptor antagonist deficiency 612852 Interleukin 1 receptor antagonist deficiency 612852 Tags
Green Green List (high evidence)	INPPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Opsismodysplasia 258480 Tags
Green Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430 Tags
Green Green List (high evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes 610543 Tags
Green Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations Smith-Magenis syndrome, MIM#182290 Tags
Green Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations microcephaly 1p36 deletion syndrome large anterior fontanels large, late-closing anterior fontanel deep-set eyes central nervous system anomalies pointed chin heart defects poor/absent speech hypotonia brachycephaly hearing impairment 607872 growth impairment flat nose nasal bridge mental retardation seizures epicanthus microbrachycephaly posteriorly rotated, low-set, abnormal ears developmental delay distinct dysmorphic features Tags
Green Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations parietal foramina mental retardation intellectual disability ophthalmologic anomalies Potocki-Shaffer syndrome myopia biparietal foramina enlarged anterior fontanel minor craniofacial anomalies genital abnormalities in males developmental delay multiple exostoses strabismus 601224 Tags
Green Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 17q23.1-q23.2 deletion syndrome, 613355 PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Disease associations SBBYSS syndrome 603736 GTPTS,Ohdo Genitopatellar syndrome 606170 Tags
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Andersen syndrome MIM#170390 Tags
Green Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 23 MIM#616490 Short-rib thoracic dysplasia 14 with polydactyly MIM#616546 Tags
Green Green List (high evidence)	KIAA0753	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Victorian Clinical Genetics Services Disease associations ?Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476 Short-rib skeletal dysplasia Tags
Green Green List (high evidence)	KIF22	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546 Tags
Green Green List (high evidence)	KIF24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Skeletal dysplasia MONDO:0018230, KIF24 related Tags
Green Green List (high evidence)	KIF5B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Skeletal dysplasia, MONDO:0018230, KIF5B-related Kyphomelic dysplasia Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Hydrolethalus syndrome 2 614120 Acrocallosal syndrome 200990 Joubert syndrome 12 200990 Al-Gazali-Bakalinova syndrome 607131 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Kabuki syndrome 1 - 147920 Tags
Green Green List (high evidence)	KYNU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Hydroxykynureninuria MIM#236800 Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	LBR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Pelger-Huet anomaly with mild skeletal anomalies 618019 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Tags
Green Green List (high evidence)	LEMD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Marbach-Rustad progeroid syndrome MONDO:0859147 Tags
Green Green List (high evidence)	LEMD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Melorheostosis with osteopoikilosis 155950 IC Osteopoikilosis 166700 Buschke-Ollendorff syndrome 166700 Tags
Green Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Spondylocostal dysostosis 3, autosomal recessive MIM#609813 Tags
Green Green List (high evidence)	LIFR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 Tags
Green Green List (high evidence)	LMBR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Laurin-Sandrow syndrome 135750 Polydactyly, preaxial type II 174500 Triphalangeal thumb, type I 174500 Syndactyly, type IV 186200 Acheiropody 200500 Triphalangeal thumb-polysyndactyly syndrome 174500 Hypoplastic or aplastic tibia with polydactyly 188740 Tags
Green Green List (high evidence)	LMNA	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Emery-Dreifuss muscular dystrophy 2, 181350 Heart-hand syndrome, Slovenian type 610140 Foundation Trust) Mandibuloacral dysplasia 248370 Muscular dystrophy, limb-girdle, type 1B 159001 Malouf syndrome 212112 616516 Cardiomyopathy, dilated, 1A 115200 Lipodystrophy, familial partial, 2 151660 Emery-Dreifuss muscular dystrophy 3, 616516 Charcot-Marie-Tooth disease, type 2B1 605588 Mandibuloacral dysplasia 248370 Restrictive dermopathy, lethal 275210 Hutchinson-Gilford progeria 176670 Muscular dystrophy, congenital 613205 Tags
Green Green List (high evidence)	LMX1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Nail-patella syndrome 161200 Nail-patella syndrome 161200 Tags
Green Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 Tags
Green Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Green Green List (high evidence)	LRP4	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
Green Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Disease associations Exudative vitreoretinopathy 4 601813 Osteoporosis-pseudoglioma syndrome 259770 [Bone mineral density variability 1] 601884 {Osteoporosis} 166710 van Buchem disease, type 2 607636 Osteopetrosis, autosomal dominant 1 607634 Hyperostosis, endosteal 144750 Osteosclerosis 144750 Tags
Green Green List (high evidence)	LRRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Tags
Green Green List (high evidence)	LTBP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Dental anomalies and short stature 610216 Geleophysic dysplasia 3 617809 Geleophysic dysplasia 3 617809 Tags
Green Green List (high evidence)	LYSET	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dysostosis multiplex, Ain-Naz type 619345 Tags new gene name
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MAFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Multicentric carpotarsal osteolysis syndrome 166300 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mannosidosis, alpha-, types I and II 248500 Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Disease associations Frontometaphyseal dysplasia 2, 617137 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations 3MC syndrome 1 - 257920 Tags
Green Green List (high evidence)	MATN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations MED Multiple Epiphyseal Dysplasia, Dominant Disproportionate Short Stature Spondyloepimetaphyseal dysplasia, 608728 Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 multiple epiphyseal dysplasia Tags
Green Green List (high evidence)	MBTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Skeletal dysplasia Tags
Green Green List (high evidence)	MECOM	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738 Radioulnar synostosis without hematological aberration, no OMIM # Tags
Green Green List (high evidence)	MEG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Disease associations Kagami-Ogata syndrome, MIM# 608149 Tags non-coding gene SV/CNV
Green Green List (high evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Carpenter syndrome 2 614976 Tags
Green Green List (high evidence)	MEOX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Klippel-Feil syndrome 2 214300 Tags
Green Green List (high evidence)	MESD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Osteogenesis imperfecta, type XX, MIM# 618644 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spondylocostal dysostosis 2, autosomal recessive 608681 Tags
Green Green List (high evidence)	MGP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Keutel syndrome 245150 skeletal dysplasia MONDO:0018230, MGP-related Tags
Green Green List (high evidence)	MIA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Green Green List (high evidence)	MKKS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 6, 605231 Polydactyly McKusick-Kaufman syndrome, 236700 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 1 249000 Bardet-Biedl syndrome 13 615990 Tags
Green Green List (high evidence)	MMP13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400 Tags
Green Green List (high evidence)	MMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Multicentric osteolysis, nodulosis, and arthropathy 259600 Tags
Green Green List (high evidence)	MMP9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations 613073METAPHYSEAL ANADYSPLASIA 2 Metaphyseal anadysplasia 2 613073 Tags
Green Green List (high evidence)	MNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Currarino syndrome 176450 Tags
Green Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Parietal foramina 1 168500 Parietal foramina with cleidocranial dysplasia 168550 Craniosynostosis, type 2 604757 Tags
Green Green List (high evidence)	MTX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Mandibuloacral dysplasia lipodystrophy arterial calcification Tags
Green Green List (high evidence)	MYCN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green Green List (high evidence)	MYH3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 Tags
Green Green List (high evidence)	MYO18B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549 Tags
Green Green List (high evidence)	NAGLU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Royal Melbourne Hospital UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Disease associations Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green Green List (high evidence)	NEK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short rib thoracic dysplasia 6 with or without polydactyly - 263520 Short rib-polydactyly syndrome, type IIA, 263520 Short Rib Polydactyly Syndrome SRPS type 2 (Majewski) Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Sialidosis, type I 256550 Sialidosis, type II 256550 Tags
Green Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis, type 1 162200 Neurofibromatosis, type 1 162200 Neurofibromatosis, familial spinal 162210 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis, familial spinal 162210 Tags
Green Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Marshall-Smith syndrome 602535 Sotos syndrome 2 614753 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Cornelia de Lange syndrome 1 122470 Tags
Green Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 Tags
Green Green List (high evidence)	NLRP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 CINCA (Infantile-onset multisystem inflammatory disease) 607115 Tags
Green Green List (high evidence)	NOG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations NOG-related symphalangism spectrum disorder MONDO:0100521 Tags
Green Green List (high evidence)	NOTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Disease associations Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Limb, scalp and skull defects Adams-Oliver syndrome 5, 616028 AOS Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Alagille syndrome 2 610205 Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500 Tags
Green Green List (high evidence)	NPR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Short stature with nonspecific skeletal abnormalities 616255 Epiphyseal chondrodysplasia, Miura type 615923 Acromesomelic dysplasia, Maroteaux type 602875 Tags
Green Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Sotos syndrome 1 117550 Tags
Green Green List (high evidence)	NSDHL	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Tags
Green Green List (high evidence)	NXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal recessive 2 618529 Tags
Green Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations 3-M syndrome 2 612921 Tags
Green Green List (high evidence)	OFD1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Orofaciodigital syndrome I 311200 XLD Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Joubert syndrome 10 300804 Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meier-Gorlin syndrome 1 224690 Meier-Gorlin syndrome 1 224690 Tags
Green Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meier-Gorlin syndrome 2 613800 Meier-Gorlin syndrome 2 613800 Tags
Green Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meier-Gorlin syndrome 3 613803 Meier-Gorlin syndrome 3 613803 Tags
Green Green List (high evidence)	OSR2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Skeletal dysplasia, MONDO:0018230, OSR2-related Tags
Green Green List (high evidence)	OSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Osteopetrosis, autosomal recessive 5 259720 Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS UKGTN Disease associations Osteogenesis imperfecta, type VIII 610915 Tags
Green Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Cole-Carpenter syndrome 1 112240 Cole-Carpenter syndrome 1 112240 Tags
Green Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Tags
Green Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Green Green List (high evidence)	PAX3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Disease associations Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500 Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Microcephalic osteodysplastic primordial dwarfism, type II 210720 Tags
Green Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Tags
Green Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Disease associations Hypertension and brachydactyly syndrome, 112410 Tags
Green Green List (high evidence)	PDE4D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Acrodysostosis 2, with or without hormone resistance 614613 Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green Green List (high evidence)	PDIA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations multiple congenital anomalies, MONDO:0019042, PDIA6-related Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Rhizomelic chondrodysplasia punctata, type 5 616716 Peroxisome biogenesis disorder 2A (Zellweger) 214110 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Rhizomelic CDP type 1 Rhizomelic chondrodysplasia punctata, type 1, 215100 Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Immunodeficiency 23 615816 Immunodeficiency 23 615816 Tags
Green Green List (high evidence)	PHEX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Hypophosphatemic rickets, X-linked dominant 307800 Tags
Green Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Phosphoglycerate dehydrogenase deficiency 601815 Neu-Laxova syndrome 1 256520 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green Green List (high evidence)	PIK3C2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Oculoskeletodental syndrome 618440 Tags
Green Green List (high evidence)	PIK3R1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations SHORT syndrome 269880 Tags
Green Green List (high evidence)	PISD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Liberfarb syndrome MIM# 618889 Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510 Tags
Green Green List (high evidence)	PITX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Liebenberg syndrome 186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 Tags
Green Green List (high evidence)	PITX1 upstream regulatory region PITX1 upstream regulatory region Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Liebenberg syndrome, MIM#186550 Tags regulatory region
Green Green List (high evidence)	PKDCC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Rhizomelic limb shortening with dysmorphic features, MIM# 618821 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Bruck syndrome 2 609220 Tags
Green Green List (high evidence)	PLS3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Bone mineral density QTL18, osteoporosis 300910 Tags
Green Green List (high evidence)	POC1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 Tags
Green Green List (high evidence)	POLR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Acrofacial dysostosis, Cincinnati type 616462 Tags
Green Green List (high evidence)	POLR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Treacher-Collins syndrome type 4 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Treacher Collins syndrome 3 248390 Tags
Green Green List (high evidence)	POLR1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Treacher Collins syndrome 2 613717 Tags
Green Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Anauxetic dysplasia 2, 617396 Tags
Green Green List (high evidence)	POR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type IX 259440 Osteogenesis imperfecta, type IX 259440 Tags
Green Green List (high evidence)	PRKAR1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Pigmented nodular adrenocortical disease, primary, 1 610489 Acrodysostosis 1, with or without hormone resistance 101800 Myxoma, intracardiac 255960 Tags
Green Green List (high evidence)	PRKG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Acromesomelic dysplasia 4, MIM# 619636 Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638 Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PSAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Neu-Laxova syndrome 2 616038 Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Phosphoserine phosphatase deficiency 614023 Tags
Green Green List (high evidence)	PTBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations STAD syndrome, MIM# 621495 Tags
Green Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Chondrodysplasia, Blomstrand type 215045 Tags
Green Green List (high evidence)	PTHLH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Brachydactyly, type E2 613382 Brachydactyly, type E2 613382 Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations LEOPARD syndrome 1 151100 Noonan syndrome 1 163950 Metachondromatosis 156250 LEOPARD syndrome 1 151100 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Other Disease associations Verheij syndrome, 615583 Chromosome 8q24.3 deletion syndrome VRJS PUF60 syndrome Tags
Green Green List (high evidence)	PYCR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Disease associations Cutis laxa, autosomal recessive, type IIIB 614438 Cutis laxa, autosomal recessive, type IIB 612940 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Carpenter syndrome 201000 Tags
Green Green List (high evidence)	RAB33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Smith-McCort dysplasia 2 615222 Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Martsolf syndrome 1 MIM#212720 Tags
Green Green List (high evidence)	RASGRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects Bleeding disorder, platelet-type, 18 615888 Tags
Green Green List (high evidence)	RBBP8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744 Tags
Green Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Thrombocytopenia-absent radius syndrome 274000 Tags
Green Green List (high evidence)	RBPJ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 3, 614814 Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Rothmund-Thomson syndrome 268400 Baller-Gerold syndrome 218600 RAPILINO syndrome 266280 Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type In 612015 Tags
Green Green List (high evidence)	RIGI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Singleton-Merten syndrome 2, MIM# 616298 Tags new gene name
Green Green List (high evidence)	RIPPLY2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spondylocostal dysostosis 6, MIM# 616566 Tags
Green Green List (high evidence)	RMP64	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Anauxetic dysplasia 3, MIM618853 Tags
Green Green List (high evidence)	RMRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Anauxetic dysplasia 607095 Cartilage-hair hypoplasia 250250 Metaphyseal dysplasia without hypotrichosis 250460 Tags non-coding gene
Green Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Microcephalic osteodysplastic primordial dwarfism, type I 210710 Roifman syndrome 616651 Tags non-coding gene
Green Green List (high evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Brachydactyly, type B1 113000 Robinow syndrome, autosomal recessive 268310 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations COACH syndrome 216360 Joubert syndrome 7 611560 Meckel syndrome 5 611561 Tags
Green Green List (high evidence)	RPL13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Spondyloepimetaphyseal Dysplasia with Severe Short Stature Tags
Green Green List (high evidence)	RSPRY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 Tags
Green Green List (high evidence)	RUNX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Cleidocranial dysplasia 119600 Tags
Green Green List (high evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 Tags
Green Green List (high evidence)	SALL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations IVIC syndrome 147750 Okihiro (Duane-radial ray) syndrome 607323 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome 260400 Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Van den Ende-Gupta syndrome 600920 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184 Short stature skeletal abnormalities craniofacial abnormalities dental anomalies Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta, Cole Carpenter syndrome Tags
Green Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations OI/osteoporosis osteogenesis imperfecta Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta, type VI, 613982 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type X, 613848 OI3 Osteogenesis Imperfecta and Decreased Bone Density {Preterm premature rupture of the membranes, susceptibility to}, 610504 skeletal dysplasias Osteogenesis Imperfecta, Recessive Tags
Green Green List (high evidence)	SETD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Luscan-Lumish syndrome 616831 Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Acrofacial dysostosis 1, Nager type 154400 Tags
Green Green List (high evidence)	SFRP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Disease associations Pyle disease, MIM#265900 Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 Tags
Green Green List (high evidence)	SH3BP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Cherubism 118400 Tags
Green Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Frank-ter Haar syndrome 249420 Tags
Green Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Leri-Weill dyschondrosteosis 127300 Short stature, idiopathic familial 300582 Langer mesomelic dysplasia 249700 Tags
Green Green List (high evidence)	SHOX downstream regulatory region SHOX downstream regulatory region Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Shprintzen-Goldberg syndrome 182212 Tags
Green Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations skeletal dysplasia and amelogenesis imperfecta Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 Tags
Green Green List (high evidence)	SLC17A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Sialic acid storage disorder, infantile 269920 Tags
Green Green List (high evidence)	SLC26A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Disease associations multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 ACG1B,DD,rMED Multiple Epiphyseal Dysplasia, Recessive Tags
Green Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Histiocytosis-lymphadenopathy plus syndrome 602782 Tags
Green Green List (high evidence)	SLC34A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Victorian Clinical Genetics Services Disease associations Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Tags
Green Green List (high evidence)	SLC34A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Hypophosphatemic rickets with hypercalciuria 241530 Tags
Green Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Disease associations GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green Green List (high evidence)	SLC35D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Schneckenbecken dysplasia 269250 Schneckenbecken dysplasia 269250 Tags
Green Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Tags
Green Green List (high evidence)	SLCO2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 Tags
Green Green List (high evidence)	SMAD3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Loeys-Dietz syndrome 3 613795 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Myhre syndrome 139210 Myhre syndrome 139210 Tags
Green Green List (high evidence)	SMAD6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations {Radioulnar synostosis, nonsyndromic} 179300 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Schimke immunoosseous dysplasia 242900 Schimke immunoosseous dysplasia 242900 Tags
Green Green List (high evidence)	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Coffin-Siris syndrome 3, MIM# 614608 Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Coffin-Siris syndrome 5, MIM# 616938 Tags
Green Green List (high evidence)	SMC1A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Cornelia de Lange syndrome 2 300590 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Disease associations Cornelia de Lange syndrome 3 610759 Tags
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Ophthalmo-acromelic syndrome Polydactyly Microphthalmia with limb anomalies 206920 Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Cerebrocostomandibular syndrome 117650 Tags
Green Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 8 615085 Tags
Green Green List (high evidence)	SOST	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Disease associations Craniodiaphyseal dysplasia, autosomal dominant 122860 Van Buchem disease 239100 Sclerosteosis 1 269500 Tags
Green Green List (high evidence)	SOX11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Coffin-Siris syndrome MONDO:0015452 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Campomelic dysplasia with autosomal sex reversal 114290 Campomelic dysplasia 114290 Acampomelic campomelic dysplasia 114290 Tags
Green Green List (high evidence)	SP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XII 613849 Tags
Green Green List (high evidence)	SPARC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XVII 616507 Tags
Green Green List (high evidence)	STT3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type Iw MIM#615596 Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Multiple sulfatase deficiency 272200 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Transaldolase deficiency 606003 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460. Kenny-Caffey syndrome, type 1 244460 Tags
Green Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Cousin syndrome 260660 Tags
Green Green List (high evidence)	TBX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 Tags
Green Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ulnar-mammary syndrome 181450 Tags
Green Green List (high evidence)	TBX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ischiocoxopodopatellar syndrome 147891 Ischiocoxopodopatellar syndrome 147891 Tags
Green Green List (high evidence)	TBX5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Holt-Oram syndrome 142900 Tags
Green Green List (high evidence)	TBX6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spondylocostal dysostosis 5 122600 Tags
Green Green List (high evidence)	TBXAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Ghosal hematodiaphyseal syndrome MIM#231095 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 1 259700 Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Treacher Collins syndrome 1 154500 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 8 613885 Joubert syndrome 24 616654 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Orofaciodigital syndrome IV 258860 Joubert syndrome 18 614815 Tags
Green Green List (high evidence)	TEDC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Primary microcephaly, MONDO:0016660 Tags new gene name
Green Green List (high evidence)	TENT5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Osteogenesis imperfecta, type XVIII 617952 Tags
Green Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 Tags
Green Green List (high evidence)	TGFB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Camurati-Engelmann disease 131300 Camurati-Engelmann disease 131300 Tags
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 4, MIM# 614816 Camurati-Engelmann disease 2, MIM# 606631 Tags
Green Green List (high evidence)	TGFBR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Loeys-Dietz syndrome 2 610168 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIk 614727 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 2 603194 Joubert syndrome 2 608091 Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 11 615397 Joubert syndrome 20 614970 Tags
Green Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XIV 615066 osteogenesis imperfecta Osteogenesis imperfecta, type XIV, 615066 Tags
Green Green List (high evidence)	TMEM53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Primary Bone Dysplasia MONDO: 0018230 Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Osteolysis, familial expansile 174810 Paget disease of bone 2, early-onset 602080 Osteopetrosis, autosomal recessive 7 612301 Tags
Green Green List (high evidence)	TNFRSF11B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations juvenile Paget disease MONDO:0009394 chondrocalcinosis 1 MONDO:0010917 Tags
Green Green List (high evidence)	TNFSF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 2 259710 Tags
Green Green List (high evidence)	TONSL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068 Tags
Green Green List (high evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TRAPPC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Disease associations Spondyloepiphyseal dysplasia tarda, MIM# 313400 Tags
Green Green List (high evidence)	TREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Nasu-Hakola disease 221770 Tags
Green Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Achondrogenesis, type IA 200600 Achondrogenesis, type IA 200600 Tags
Green Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Trichorhinophalangeal syndrome, type I 190350 Trichorhinophalangeal syndrome, type III 190351 Tags
Green Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Digital arthropathy-brachydactyly, familial 606835 Parastremmatic dwarfism 168400 Scapuloperoneal spinal muscular atrophy 181405 SED, Maroteaux type 184095 Brachyolmia type 3 113500 Hereditary motor and sensory neuropathy, type IIc 606071 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Metatropic dysplasia 156530 Spondylometaphyseal dysplasia, Kozlowski type 184252 Tags
Green Green List (high evidence)	TRPV6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Hyperparathyroidism, transient neonatal, 618188 Tags
Green Green List (high evidence)	TTC21B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations SRTD4 Asphyxiating Thoracic Dystrophy Nephronophthisis 12, 613820 Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Polydactyly Bardet-Biedl syndrome 8, 615985 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400 Saethre-Chotzen syndrome 101400 Robinow-Sorauf syndrome 180750 Tags
Green Green List (high evidence)	TYROBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Nasu-Hakola disease 221770 Tags
Green Green List (high evidence)	UBA2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green Green List (high evidence)	UFSP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Hip dysplasia, Beukes type, MIM#142669 Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 Tags
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Disease associations Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Victorian Clinical Genetics Services Disease associations Rickets, vitamin D-resistant, type IIA, 277440 Tags
Green Green List (high evidence)	VPS33A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis-plus syndrome (MIM#617303) Tags
Green Green List (high evidence)	WBP11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227 malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Tags
Green Green List (high evidence)	WDHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations microcephalic osteodysplastic primordial dwarfism, MONDO:0000060 Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Disease associations ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 Tags
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Asphyxiating thoracic dystrophy 5, 614376 Cranioectodermal dysplasia 4, 614378 SRTD5 Tags
Green Green List (high evidence)	WDR35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Cranioectodermal dysplasia 2 613610 Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Tags
Green Green List (high evidence)	WNT1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations OI/osteoporosis osteogenesis imperfecta Osteogenesis imperfecta, type XV, 615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Tags
Green Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Disease associations Split-hand/foot malformation 6 225300 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal dominant 1 180700 Tags
Green Green List (high evidence)	WNT7A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Fuhrmann syndrome, MIM# 228930 Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Santos syndrome, MIM# 613005 Tags
Green Green List (high evidence)	XRCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Short stature, microcephaly, and endocrine dysfunction 616541 Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Desbuquois dysplasia 2 615777 Desbuquois dysplasia 2 615777 Tags
Green Green List (high evidence)	XYLT1_DBQD2_GGC STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Desbuquois dysplasia 2 MIM#615777 Tags
Green Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Spondyloocular syndrome 605822 Tags
Green Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Disease associations Gabriele-de Vries syndrome 617557 Gabriele-de Vries syndrome 617557 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Restrictive dermopathy, lethal 275210 Mandibuloacral dysplasia with type B lipodystrophy 608612 Tags
Green Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Other Victorian Clinical Genetics Services Disease associations Acromelic frontonasal dysostosis 603671 Tags
Amber Amber List (moderate evidence)	BNIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spondylopeiphyseal dysplasia, Holling type, MIM# 621345 Tags
Amber Amber List (moderate evidence)	CCN2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Kyphomelic dysplasia MONDO:0008881 Spondyloepimetaphyseal dysplasia MONDO:0100510 Tags
Amber Amber List (moderate evidence)	CHST11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Tags SV/CNV
Amber Amber List (moderate evidence)	CPAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Seckel syndrome 4, MIM# 613676 Tags
Amber Amber List (moderate evidence)	DVL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Robinow syndrome MONDO:0019978 Tags
Amber Amber List (moderate evidence)	FGF4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260 Tags
Amber Amber List (moderate evidence)	FGF8	2 reviews	Unknown	Sources Expert Review Amber Disease associations Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel. Tags SV/CNV
Amber Amber List (moderate evidence)	HDAC4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Albright hereditary osteodystrophy-like syndrome Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430 Albright hereditary osteodystrophy type 3 Brachydactyly-intellectual disability Del(2)(q37) 600430 Tags
Amber Amber List (moderate evidence)	HNRNPK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Disease associations OMIM:616580 Orphanet:453499 Au-Kline syndrome:616580 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Tags
Amber Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations TIMES syndrome MIM#621056 Tags
Amber Amber List (moderate evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Beta-mannosidosis, 248510 Tags
Amber Amber List (moderate evidence)	MET	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations {Osteofibrous dysplasia, susceptibility to} 607278 Tags
Amber Amber List (moderate evidence)	MIR140	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618 Tags non-coding gene
Amber Amber List (moderate evidence)	MIR17HG	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Disease associations FS2 Microcephaly-oculo-digito-esophageal-duodenal syndrome Brachydactyly with short stature and microcephaly Feingold syndrome 2, 614326 Tags non-coding gene SV/CNV
Amber Amber List (moderate evidence)	MMP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations Winchester syndrome 277950 Tags
Amber Amber List (moderate evidence)	MTAP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Disease associations Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250 Tags
Amber Amber List (moderate evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Amber Disease associations Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Tags
Amber Amber List (moderate evidence)	PFN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Paget disease of bone 7, early-onset, MIM# 621600 Tags
Amber Amber List (moderate evidence)	RAD21	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Cornelia de Lange syndrome 4 614701 Tags
Amber Amber List (moderate evidence)	SIK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Disease associations Spondyloepimetaphyseal dysplasia, Krakow type - #618162 Tags
Amber Amber List (moderate evidence)	SLC13A1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations sulfation-related bone disorder MONDO:0019688, SLC13A1-related Tags
Amber Amber List (moderate evidence)	SLC35B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Tags
Amber Amber List (moderate evidence)	TAPT1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 Tags
Amber Amber List (moderate evidence)	VPS35L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags
Red Red List (low evidence)	ACVR2B	2 reviews 2 red	Unknown	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Disease associations Heterotaxy, visceral, 4, autosomal 613751 Tags
Red Red List (low evidence)	ADGRV1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	ADI1	1 review 1 red	Unknown	Sources Expert Review Red Disease associations No OMIM or G2P phenotype Tags
Red Red List (low evidence)	AHI1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AKT1	3 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Cowden syndrome 6 615109 Proteus syndrome, somatic 176920 Tags
Red Red List (low evidence)	APC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Syndromic disease, MONDO:0002254, APC-related Tags
Red Red List (low evidence)	ARL13B	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ATXN10	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 10 614175 Tags
Red Red List (low evidence)	BANF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Nestor-Guillermo progeria syndrome 614008 Tags
Red Red List (low evidence)	BMP5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Skeletal dysplasia, MONDO:0018230, BMP5-related Skeletal dysostosis and atrioventricular septal defect Tags
Red Red List (low evidence)	CCDC28B	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Red Victorian Clinical Genetics Services Disease associations {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CCDC39	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CCDC40	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CD96	1 review	Not set	Sources Expert Review Amber Genetic Health Queensland NHS GMS Victorian Clinical Genetics Services Disease associations C-syndrome 217750 (opitz trigonocephaly) Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Meier-Gorlin syndrome 5 613805 Tags
Red Red List (low evidence)	CDH23	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CEP152	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Red Red List (low evidence)	CEP164	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CEP41	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CFTR	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CKAP2L	1 review 1 green	Not set	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Syndactyly with microcephaly and MR (Filippi syndrome) 272440 Tags
Red Red List (low evidence)	CLRN1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COL12A1	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Disease associations Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) Tags
Red Red List (low evidence)	COL5A1	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COLEC10	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations 3MC syndrome 3 -248340 Tags
Red Red List (low evidence)	CPLANE1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CRB1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	CRELD1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CRX	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature NHS GMS Other Disease associations ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red Red List (low evidence)	DDX41	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Bone dysplasia, ichthyosis, and dysmorphism Tags
Red Red List (low evidence)	DLX6	0 reviews	Unknown	Sources Expert Review Red NHS GMS Disease associations Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Split-hand/foot malformation 1 183600 Tags
Red Red List (low evidence)	DNAAF1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAAF2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAAF3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAH11	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAH5	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAI1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAI2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAL1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DOLPP1	0 reviews	Unknown	Sources Expert Review Red Disease associations Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features) Tags
Red Red List (low evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iu 615042 Tags
Red Red List (low evidence)	DPM3	1 review 1 green	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Io 612937 Tags
Red Red List (low evidence)	DSPP	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Disease associations Dentin dysplasia, type II, 125420 -3 Dentinogenesis imperfecta, Shields type III, 125500 Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Tags
Red Red List (low evidence)	ENPP5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Skeletal dysplasia, MONDO:0018230, ENPP5-related Tags
Red Red List (low evidence)	EP300	1 review 1 green	Not set	Sources Expert Review Red NHS GMS Disease associations Rubinstein Taybi syndrome Rubinstein-Taybi syndrome 180849 Tags
Red Red List (low evidence)	ESR1	1 review 1 green	Not set	Sources Expert Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ETF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FBLIM1	0 reviews	Not set	Sources NHS GMS Disease associations Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Red Red List (low evidence)	FBLN1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Disease associations Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Tags
Red Red List (low evidence)	FBXW4	1 review 1 red	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Disease associations Split-hand/foot malformation 3 syndrome 246560 Tags
Red Red List (low evidence)	FMN1	1 review	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Red Literature UKGTN Disease associations Animal models with skeletal dysplastic phenotypes Tags
Red Red List (low evidence)	FOXC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FOXH1	1 review	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GDF1	2 reviews 1 green 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GDF3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Klippel-Feil anomaly with laryngeal malformation - 613702 Tags
Red Red List (low evidence)	GLIS2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GREM1	1 review	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Tags
Red Red List (low evidence)	GUCY2D	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HDAC5	0 reviews	Unknown	Sources Expert list Expert Review Red Disease associations osteoporosis Tags
Red Red List (low evidence)	HDAC6	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations chondrodysplasia MONDO:0022723 Tags
Red Red List (low evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 Tags
Red Red List (low evidence)	HOXD11	0 reviews	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	IDH2	1 review 1 green	Unknown	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations D-2-hydroxyglutaric aciduria 2 613657 Ollier disease/ Dyschondroplasia 166000 Maffucci syndrome 614569 Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) Tags
Red Red List (low evidence)	IFT88	0 reviews	Unknown	Sources Expert list Expert Review Red UKGTN Tags
Red Red List (low evidence)	INVS	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IQCB1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LAMA5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Bent bone dysplasia syndrome 2, MIM# 620076 Tags
Red Red List (low evidence)	LCA5	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	LEFTY2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LOXL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Red Disease associations Stickler syndrome Tags
Red Red List (low evidence)	LRAT	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LRP6	2 reviews 1 green	Not set	Sources Expert Tags
Red Red List (low evidence)	LTBP2	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Weill-Marchesani Tags
Red Red List (low evidence)	MAN2C1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Red Literature Disease associations alpha-Mannosidosis Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Meier-Gorlin syndrome 8, MIM# 617564 Tags
Red Red List (low evidence)	MYO7A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NEK8	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NEK9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations NEK9-related lethal skeletal dysplasia MONDO:0014870 Tags founder
Red Red List (low evidence)	NFATC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Skeletal system disorder MONDO:0005172 Tags
Red Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Seckel syndrome 7 614851 Tags
Red Red List (low evidence)	NKX2-5	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NME8	1 review 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NODAL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPHP1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPHP3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Meckel syndrome 7 267010 Tags
Red Red List (low evidence)	NPHP4	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPPC	1 review 1 red	Unknown	Sources Expert list Expert Review Red Disease associations Overgrowth syndrome with 2q37 translocations Tags
Red Red List (low evidence)	OAT	1 review 1 green	Not set	Sources Expert Review Red NHS GMS Disease associations Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Red Red List (low evidence)	OGFRL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cherubism (MONDO:0007315), OGFRL1-related Tags
Red Red List (low evidence)	PCDH15	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PIK3CA	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations CLOVES 612918 Tags
Red Red List (low evidence)	PIN1	0 reviews	Unknown	Sources Expert list Expert Review Red Disease associations No phenotype associated with this gene Tags
Red Red List (low evidence)	PIR	0 reviews	Unknown	Sources Expert Review Red Disease associations Osteoporosis Tags
Red Red List (low evidence)	PKD2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PKHD1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PLCB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Tags
Red Red List (low evidence)	PLEKHM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal recessive 6 611497 Osteopetrosis, autosomal dominant 3 - 618107 Tags
Red Red List (low evidence)	PLOD1	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PTPRQ	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Red Red List (low evidence)	RD3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RDH12	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RPE65	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGR	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGRIP1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Tags
Red Red List (low evidence)	RSPH4A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RSPH9	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SCNN1A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCNN1B	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCNN1G	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Expert Review Red Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 16, 615993 Tags
Red Red List (low evidence)	SEM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations SHFM1 Tags
Red Red List (low evidence)	SEMA3A	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies Tags
Red Red List (low evidence)	SHH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Disease associations Preaxial polydactyly type 1 (PPD1) Tags
Red Red List (low evidence)	SLCO5A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Disease associations Mesomelia-synostoses syndrome 600383 Mesomelia-synostoses syndrome 600383 Tags
Red Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red Red List (low evidence)	SPECC1L	1 review 1 green	Other	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Facial clefting, oblique, 1 600251 Opitz GBBB syndrome, type II 145410 Teebi hyperterorism like syndrome 145420 Tags
Red Red List (low evidence)	SRP54	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT SCN8 Tags
Red Red List (low evidence)	TCTN1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TDP2	1 review 1 green	Not set	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Disease associations Dentinogenesis imperfecta, Shields type II, 125490 Tags
Red Red List (low evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Catel-Manzke syndrome 616145 Tags
Red Red List (low evidence)	THPO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Thrombocythemia 1 187950 (rare presentation with congenital limb defects) Tags
Red Red List (low evidence)	TMEM138	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TMEM237	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Disease associations COACH syndrome 216360 Meckel syndrome 3 607361 {Bardet-Biedl syndrome 14, modifier of} 615991 Joubert syndrome 6 610688 Tags
Red Red List (low evidence)	TNXB	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TOPORS	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Tags
Red Red List (low evidence)	TRIM32	2 reviews 1 green 1 red	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Disease associations Polydactyly Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TRMT10A	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Microcephaly, short stature and impaired glucose metabolism, 616033 Tags
Red Red List (low evidence)	TSC1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TSC2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TULP1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UMOD	3 reviews 2 green 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	USH1C	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH1G	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH2A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	VAC14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Disease associations Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies) Tags
Red Red List (low evidence)	VHL	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	WHRN	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	WNT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Tetra-amelia syndrome 273395 Tags
Red Red List (low evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Werner syndrome -277700 Tags
Red Red List (low evidence)	XPNPEP3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ZBTB16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Skeletal defects, genital hypoplasia, and mental retardation 612447 Tags
Red Red List (low evidence)	ZIC3	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ZNF423	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Tags

Skeletal dysplasia (Version 1.0)

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