Prepair 500+ (Version 3.0)

Description

This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).

It has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.

Genes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.

Please note only Green genes are analysed and reported.

Panel Activity

20 reviewers

Lauren Rogers (Victorian Clinical Genetics Services)
Clare Hunt (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)
Andrew Coventry (Victorian Clinical Genetics Services)
Lana Giameos (Victorian Clinical Genetics Services)
Lauren Thomas (VIctorian Clinical Genetics Services)
Kate Scarff (Victorian Clinical Genetics Services)
Shakira Heerah (Victorian Clinical Genetics Services)
Cassandra Muller (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)

629 Entities

629 reviewed, 626 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 629 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Achalasia-addisonianism-alacrimia syndrome, 231550 (3) Tags
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 8, 614096 (3) Tags
Green Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Tags
Green Green List (high evidence)	ABCA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) Tags
Green Green List (high evidence)	ABCB11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cholestasis, progressive familial intrahepatic 2, 601847 (3) Tags
Green Green List (high evidence)	ABCB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cholestasis, progressive familial intrahepatic 3, 602347 (3) Tags
Green Green List (high evidence)	ABCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Adrenoleukodystrophy, 300100 (3) Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126) Tags
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 Tags
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations VLCAD deficiency (MIM#201475) Tags
Green Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Alpha-methylacetoacetic aciduria, MIM#203750 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisomal acyl-CoA oxidase deficiency, MIM#264470 Tags
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Severe combined immunodeficiency due to ADA deficiency MIM#102700 Adenosine deaminase deficiency, partial MIM#102700 Tags
Green Green List (high evidence)	ADAMTS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 6, MIM#615010 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags
Green Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 2C, MIM# 605472 Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Adenylosuccinase deficiency MIM#103050 Tags
Green Green List (high evidence)	AFG2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aspartylglucosaminuria, MIM# 208400, MONDO:0008830 Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sengers syndrome, MIM#212350 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease IIIa and IIIb, MIM#232400 Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 Tags
Green Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperoxaluria, primary, type 1 MIM #259900 Tags
Green Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 3 MIM#608629 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 Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AIPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Reticular dysgenesis MIM# 267500 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cutis laxa, autosomal recessive, type IIIA (MIM#219150) Spastic paraplegia 9B, autosomal recessive (MIM#616586) Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sjogren-Larsson syndrome (MIM#270200) Tags
Green Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100 Tags
Green Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type Id, MIM#601110 Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type Ic, MIM#603147 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypophosphatasia, childhood (MIM#241510) Hypophosphatasia, infantile (MIM#241500) Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycine encephalopathy MIM#620398 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AQP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Diabetes insipidus, nephrogenic, type 2 MIM# 125800 Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Argininemia MIM# 207800 Tags
Green Green List (high evidence)	ARL13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Metachromatic leukodystrophy, MIM# 250100 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 Tags
Green Green List (high evidence)	ARX	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Argininosuccinic aciduria MIM#207900 Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Asparagine synthetase deficiency, MIM#615574 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Canavan disease MIM#271900 Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly 5, primary, autosomal recessive (MIM#608716) Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Citrullinaemia (MIM# 215700) Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ataxia-telangiectasia, MIM# 208900 Tags
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Menkes disease(MIM#309400) Occipital horn syndrome(MIM#304150) Tags
Green Green List (high evidence)	ATP7B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Wilson disease (MIM#277900) Tags
Green Green List (high evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cholestasis, progressive familial intrahepatic 1, MIM#211600 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Seckel syndrome 1(MIM#210600) Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519 Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-methylglutaconic aciduria, type I, MIM# 250950 MONDO:0009610 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peters-plus syndrome (MIM#261540) Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 10 (MIM#615987) Tags
Green Green List (high evidence)	BBS12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 12, MIM#615989 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 2, MIM#615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 4, MIM#615982 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 9 MIM#615986 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Maple syrup urine disease, type Ia, MIM# 248600 Tags
Green Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Maple syrup urine disease, type Ib 620698 Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations GRACILE syndrome, MIM#603358 Mitochondrial complex III deficiency, nuclear type 1, MIM#124000 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bloom Syndrome MIM# 210900 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 93 MIM#300659 Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bartter syndrome, type 4a MIM#602522 Tags
Green Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Agammaglobulinemia, X-linked 1 MIM#300755 Bruton-type agammaglobulinemia MONDO:0010421 Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Desbuquois dysplasia 1, MIM# 251450 Epiphyseal dysplasia, multiple, 7, MIM# 617719 Tags
Green Green List (high evidence)	CAPN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600 Tags
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations X-linked syndromic intellectual disability MONDO:0020119 Tags
Green Green List (high evidence)	CASQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938) Tags
Green Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510 Tags
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ciliary dyskinesia, primary, 14 MIM#613807 Tags
Green Green List (high evidence)	CCDC88C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hydrocephalus, congenital, 1 MIM#236600 Tags
Green Green List (high evidence)	CCN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Progressive pseudorheumatoid dysplasia MIM#208230 Tags
Green Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency 19, severe combined MIM# 615617 Tags
Green Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags
Green Green List (high evidence)	CD40LG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Tags
Green Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 1D (MIM#601067) Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations CEP290-related ciliopathy MONDO:0100451 Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5 610188 Leber congenital amaurosis 10, MIM# 611755 Meckel syndrome 4, MIM# 611134 Senior-Loken syndrome 6, MIM# 610189 Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cystic fibrosis, MIM#219700 MONDO:0009061 Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myasthenic syndrome, congenital, 6, presynaptic MIM#254210 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809 Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Escobar syndrome (MIM# 265000) Multiple pterygium syndrome, lethal type, (MIM# 253290) Tags
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations MHC class II deficiency 1 MIM#209920 Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Filippi syndrome MIM#272440 Tags
Green Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Dent disease, MIM#300009 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteopetrosis, autosomal recessive 4, MIM#611490 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal 6, MIM#601780 Tags
Green Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 10 MIM#615803 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271) Tags
Green Green List (high evidence)	CLRN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 3A, MIM#276902 Tags
Green Green List (high evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Achromatopsia 3 MIM#262300 Tags
Green Green List (high evidence)	COL11A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Deafness, autosomal recessive 53 MIM#609706 Fibrochondrogenesis 2 MIM#614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150 Tags
Green Green List (high evidence)	COL17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787 Tags
Green Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Knobloch syndrome, type 1 MIM#267750 Tags
Green Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Steel syndrome (MIM#615155) Tags
Green Green List (high evidence)	COL4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Alport syndrome 3b, autosomal recessive MIM#620536 MONDO:0957811 Tags
Green Green List (high evidence)	COL4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Alport syndrome 2, autosomal recessive MIM# 203780 Tags
Green Green List (high evidence)	COL4A5	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 Mackenzie's Mission Disease associations Alport syndrome 1, X-linked, MIM#301050 Tags
Green Green List (high evidence)	COL6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ullrich congenital muscular dystrophy 1A MIM#254090 Tags
Green Green List (high evidence)	COL7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa dystrophica inversa MIM#226600 Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600 Epidermolysis bullosa dystrophica, localisata variant MIM#226600 Epidermolysis bullosa pruriginosa MIM#604129 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3MC syndrome 2, MIM# 265050 MONDO:0009927 Tags
Green Green List (high evidence)	COLQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myasthenic syndrome, congenital, 5 MIM#603034 MONDO:0011281 Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119 Tags
Green Green List (high evidence)	CPAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly 6, primary MIM#608393 Seckel syndrome 4 MIM#613676 Tags
Green Green List (high evidence)	CPLANE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 17, MIM# 614615 Orofaciodigital syndrome VI, MIM# 277170 Tags
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Carbamoylphosphate synthetase I deficiency MIM#237300 Tags
Green Green List (high evidence)	CPT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations CPT deficiency, hepatic, type IA, MIM#255120 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 Tags
Green Green List (high evidence)	CRB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 8, MIM#613835 Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteogenesis imperfecta, type VII MIM#610682 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 21 MIM#615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cystinosis, nephropathic MIM#219800 Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Galactosialidosis MIM#256540 Tags
Green Green List (high evidence)	CTSC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 Tags
Green Green List (high evidence)	CTSD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pycnodysostosis MIM#265800 Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354 Tags
Green Green List (high evidence)	CYBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Chronic granulomatous disease 4 MIM#233690 Tags
Green Green List (high evidence)	CYBB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Chronic granulomatous disease, X-linked, MIM#306400 Tags
Green Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743 Tags
Green Green List (high evidence)	CYP11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400 Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600 Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110 Tags
Green Green List (high evidence)	CYP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Anterior segment dysgenesis 6, multiple subtypes, MIM#617315 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebrotendinous xanthomatosis, MIM#213700 Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bile acid synthesis defect, congenital, 3, MIM#613812 Spastic paraplegia 5A, MIM#270800 Tags
Green Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations D-2-hydroxyglutaric aciduria, MIM#600721 Tags
Green Green List (high evidence)	DBT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Maple syrup urine disease, type II, MIM#248600 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Woodhouse-Sakati syndrome MIM#241080 Tags
Green Green List (high evidence)	DCLRE1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Severe combined immunodeficiency, Athabascan type, MIM# 602450 Omenn syndrome, MIM# 603554 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Lissencephaly, X-linked MIM#300067 Subcortical laminal heterotopia, X-linked MIM#300067 Tags
Green Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aromatic L-amino acid decarboxylase deficiency MIM#608643 Aromatic L-amino acid decarboxylase deficiency (MIM#608643) Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Warsaw breakage syndrome MIM#613398 Tags
Green Green List (high evidence)	DGAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Diarrhoea 7, protein-losing enteropathy type, MIM# 615863 congenital diarrhea 7 with exudative enteropathy MONDO:0014375 Tags
Green Green List (high evidence)	DGUOK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Desmosterolosis, MIM#602398 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Smith-Lemli-Opitz syndrome (MIM#270400) Tags
Green Green List (high evidence)	DHDDS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type 1bb, MIM# 621567 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Perlman syndrome MIM# 267000 Tags
Green Green List (high evidence)	DKC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Dyskeratosis congenita, X-linked MIM#305000 Tags
Green Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dihydrolipoamide dehydrogenase deficiency (MIM#246900) Tags
Green Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 90 MIM#300850 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 MONDO:0020692 Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Duchenne muscular dystrophy MIM#310200 Tags
Green Green List (high evidence)	DNAAF19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Primary ciliary dyskinesia-17, MIM # 614679 Tags
Green Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644 Tags
Green Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green Green List (high evidence)	DNAI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860) Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Adams-Oliver syndrome 2, MIM# 614219 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myasthenic syndrome, congenital, 10, MIM# 254300 Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green Green List (high evidence)	DYM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dyggve-Melchior-Clausen disease MIM#223800 Smith-McCort dysplasia MIM#607326 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Tags
Green Green List (high evidence)	DYNC2I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287 Tags
Green Green List (high evidence)	DYSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Miyoshi muscular dystrophy 1 MIM#254130 MONDO:0024545 Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601 MONDO:0009676 Myopathy, distal, with anterior tibial onset MIM#606768 MONDO:0011721 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags
Green Green List (high evidence)	EDA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500 Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Wolcott-Rallison syndrome MIM#226980 Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896 Tags
Green Green List (high evidence)	EIF2B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314 Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315) Tags
Green Green List (high evidence)	ELP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dysautonomia, familial MIM#223900 Tags
Green Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300 Tags
Green Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Arterial calcification, generalized, of infancy, 1 MIM#208000 Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Vici syndrome MIM# 242840 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Trichothiodystrophy 1, photosensitive, MIM# 601675 Xeroderma pigmentosum, group D, MIM# 278730 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cockayne syndrome, type A, MIM#216400 Tags
Green Green List (high evidence)	ESCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Roberts-SC phocomelia syndrome (MIM#268300) Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glutaric acidemia IIA, MIM# 231680 Tags
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glutaric acidemia IIB, MIM# 231680 Tags
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glutaric acidemia IIC, MIM# 231680 Tags
Green Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ethylmalonic encephalopathy, MIM#602473 Tags
Green Green List (high evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ellis-van Creveld syndrome, MIM# 225500 Tags
Green Green List (high evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ellis-van Creveld syndrome MIM#225500 Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Green Green List (high evidence)	F2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypoprothrombinaemia (MIM#613679) Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Tyrosinaemia, type I, MIM# 276700 Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group B, MIM#300514 Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group C, MIM#227645 Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group D2, MIM#227646 Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group E, MIM#600901 Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group F, MIM#603467 Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group G, MIM#614082 Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group I, MIM#609053 Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anaemia, complementation group L MIM#614083 Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006 Van Maldergem syndrome 2 MIM#615546 Tags
Green Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fructose-1,6-bisphosphatase deficiency, MIM#229700 Tags
Green Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Parkinson disease 15, autosomal recessive, MIM#260300 Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fumarase deficiency, MIM# 606812 Tags
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bruck syndrome 1, MIM#259450 osteogenesis imperfecta, type XI, MIM#610968 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153) Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155) Tags
Green Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Frontometaphyseal dysplasia 1, MIM#305620 Heterotopia, periventricular, 1, MIM#300049 Intestinal pseudoobstruction, neuronal, MIM#300048 Melnick-Needles syndrome, MIM#309350 Otopalatodigital syndrome, type I, MIM#311300 Otopalatodigital syndrome, type II, MIM#304120 Terminal osseous dysplasia, MIM#300244 Tags
Green Green List (high evidence)	FMR1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Fragile X syndrome, MIM #300624 Tags
Green Green List (high evidence)	FOXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705 Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fraser syndrome 1 MIM#219000 Tags
Green Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fraser syndrome, MIM#219000 Tags
Green Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 9 MIM#309549 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fucosidosis, MIM# 230000 Tags
Green Green List (high evidence)	G6PC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease Ia (MIM# 232200) Tags
Green Green List (high evidence)	G6PC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dursun syndrome, MIM# 612541 Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease II, MIM#232300 Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis IVA, MIM#253000 Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Galactosaemia MIM# 230400 Tags
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebral creatine deficiency syndrome 2 (MIM#612736) Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebral creatine deficiency syndrome 3 MIM#612718 AGAT deficiency MONDO:0012996 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease IV, MIM#232500 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glutaric aciduria, type I, MIM#231670 Tags
Green Green List (high evidence)	GCH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dystonia, DOPA-responsive, with or without hyperphenylalaninaemia, MIM#128230 Tags
Green Green List (high evidence)	GDAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340 Charcot-Marie-Tooth disease, type 4A, MIM#214400 Tags
Green Green List (high evidence)	GDF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Right atrial isomerism (Ivemark), MIM #208530 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Acromesomelic dysplasia 2A MIM#200700 Acromesomelic dysplasia 2B MIM#228900 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 1, MIM#609060 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Laron dwarfism, MIM#262500 Tags
Green Green List (high evidence)	GJB1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Tags
Green Green List (high evidence)	GLA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Fabry disease, MIM#301500 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM#230600 GM1-gangliosidosis, type III MIM#230650 Mucopolysaccharidosis type IVB (Morquio) MIM#253010 Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycine encephalopathy1 (MIM#605899) Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital arthrogryposis with anterior horn cell disease, MIM #611890 Lethal congenital contracture syndrome 1, MIM #253310 Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765) Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucolipidosis III alpha/beta MIM#252600 Mucolipidosis II alpha/beta MIM#252500 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucolipidosis III gamma, MIM# 252605 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Geroderma osteodysplasticum, MIM#231070 MONDO:0009271 Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Simpson-Golabi-Behmel syndrome, type 1, MIM #312870 Tags
Green Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Chudley-McCullough syndrome MIM#604213 Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glutathione synthetase deficiency MIM#266130 Tags
Green Green List (high evidence)	GUCY2D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 1, MIM #204000 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis VII, MIM# 253220 Tags
Green Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency 1 MIM#609015 Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial trifunctional protein deficiency 2 MIM#620300 Tags
Green Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haemochromatosis, type 2B MIM#613313 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neutropenia, severe congenital 3, autosomal recessive, MIM#610738 Tags
Green Green List (high evidence)	HBB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sickle cell anaemia, MIM# 603903 Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Tay-Sachs disease, MIM#272800 Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800 Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 Retinitis pigmentosa 73, MIM#616544 Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620 Tags
Green Green List (high evidence)	HJV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haemochromatosis, type 2A, MIM#602390 Tags
Green Green List (high evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Holocarboxylase synthetase deficiency MIM#253270 Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations HMG-CoA lyase deficiency, MIM# 246450 Tags
Green Green List (high evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations HMG-CoA synthase-2 deficiency, MIM#605911 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Tyrosinaemia, type III, MIM#276710 Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Lesch-Nyhan syndrome (MIM#300322) Tags
Green Green List (high evidence)	HPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hermansky-Pudlak syndrome 1, MIM#203300 Tags
Green Green List (high evidence)	HPS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hermansky-Pudlak syndrome 3 MIM#614072 Tags
Green Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hermansky-Pudlak syndrome 4, MIM #614073 Tags
Green Green List (high evidence)	HPS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hermansky-Pudlak syndrome 5 MIM#614074 Tags
Green Green List (high evidence)	HPS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hermansky-Pudlak syndrome 6, MIM# 614075 Tags
Green Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations HSD10 mitochondrial disease, MIM#300438 Tags
Green Green List (high evidence)	HSD17B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations D-bifunctional protein deficiency, MIM#261515 Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810 Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590 Tags
Green Green List (high evidence)	HYCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukodystrophy, hypomyelinating, 5 MIM#610532 Tags
Green Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hydrolethalus syndrome (MIM#236680) Ciliopathy Tags
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis II, MIM# 309900 Hunter syndrome, MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis Ih, MIM#607014 Tags
Green Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320 Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155 Tags
Green Green List (high evidence)	IKBKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency 15, MIM#615592 Tags
Green Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 21, MIM#300143 Tags
Green Green List (high evidence)	IL2RG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Severe combined immunodeficiency, X-linked, MIM#300400 Tags
Green Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 1, MIM# 213300 MONDO:0008944 Tags
Green Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 1 MIM#309530 Tags
Green Green List (high evidence)	ITGA6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817) Tags
Green Green List (high evidence)	ITGB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730 Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Gillespie syndrome, MIM# 206700 Tags
Green Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Isovaleric acidemia, MIM #243500 Tags
Green Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lissencephaly 6, with microcephaly, MIM#616212 Tags
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperinsulinemic hypoglycemia, familial, 2, MIM#601820 Tags
Green Green List (high evidence)	KCNQ1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Jervell and Lange-Nielsen syndrome MIM#220400 Tags
Green Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM#300534 Tags
Green Green List (high evidence)	KIF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spastic paraplegia 30, autosomal recessive, MIM#610357 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Al-Gazali-Bakalinova syndrome MIM#607131 Hydrolethalus syndrome 2 MIM#614120 Acrocallosal syndrome MIM#200990 Joubert syndrome 12 MIM#200990 Tags
Green Green List (high evidence)	KRT14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001 MONDO:0010976 Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations MASA syndrome, MIM#303350 Hydrocephalus, congenital, X-linked, MIM#307000 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green Green List (high evidence)	LAMA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 2B, severe (MIM#619784) 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660) Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783) Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lissencephaly 5 MIM#615191 Tags
Green Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green Green List (high evidence)	LAMB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 1A, intermediate MIM#226650 Epidermolysis bullosa, junctional 1B, severe MIM#226700 Tags
Green Green List (high evidence)	LAMC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epidermolysis bullosa, junctional 3B, severe MIM #619786 Epidermolysis bullosa, junctional 3A, intermediate MIM #619785 Tags
Green Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840 Tags
Green Green List (high evidence)	LARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Infantile liver failure syndrome 1, MIM# 615438 Tags new gene name
Green Green List (high evidence)	LCA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 5, MIM# 604537 Tags
Green Green List (high evidence)	LDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypercholesterolaemia, familial, 1, MIM# 143890 Tags
Green Green List (high evidence)	LDLRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Familial hypercholesterolemia 4, MIM#603813 Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pituitary hormone deficiency, combined, 3 (MIM# 221750) Tags
Green Green List (high evidence)	LIFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559 Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags
Green Green List (high evidence)	LIPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Wolman disease, MIM#620151 Cholesteryl ester storage disease, MIM#278000 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380 Tags
Green Green List (high evidence)	LMNA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Restrictive dermopathy, lethal, MIM#275210 Mandibuloacral dysplasia, MIM# 248370 Tags
Green Green List (high evidence)	LPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lipoprotein lipase deficiency MIM#238600 Tags
Green Green List (high evidence)	LRAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Retinal dystrophy, early-onset severe Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile, all under MIM #613341 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Donnai-Barrow syndrome, MIM #222448 Tags
Green Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3) Tags
Green Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Chediak-Higashi syndrome MIM#214500 Tags
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 17 MIM#615994 MONDO:0014445 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags
Green Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mannosidosis, beta, MIM#248510 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3MC syndrome 1, MIM# 257920 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucolipidosis IV MIM#252650 Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly 1, primary, autosomal recessive, MIM#251200 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Encephalopathy, neonatal severe MIM#300673 Intellectual developmental disorder, X-linked syndromic 13 MIM#300055 Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations MED12-related intellectual disability syndrome, MONDO:0100000 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spondylocostal dysostosis 2, MIM #608681 Tags
Green Green List (high evidence)	METTL23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, autosomal recessive 44, MIM #615942 Tags
Green Green List (high evidence)	MFN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 Tags
Green Green List (high evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Tags
Green Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Opitz GBBB syndrome MIM#300000 MONDO:0017138 Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 6 MIM#605231 McKusick-Kaufman syndrome MIM#236700 MKKS-related ciliopathy MONDO:1040050 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 13 MIM#615990 Joubert syndrome 28 MIM#617121 Meckel syndrome 1 MIM#249000 Ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004 Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Malonyl-CoA decarboxylase deficiency, MIM#248360 Tags
Green Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 Tags
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags
Green Green List (high evidence)	MMUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Molybdenum cofactor deficiency A (MIM#252150) Tags
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Molybdenum cofactor deficiency B (MIM#252160) Tags
Green Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Green Green List (high evidence)	MPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498 Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810 Tags
Green Green List (high evidence)	MRE11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ataxia-telangiectasia-like disorder, MIM#604391 Tags
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 15, MIM#614947 Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Homocystinuria due to MTHFR deficiency, MIM# 236250 Tags
Green Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Myopathy, centronuclear, X-linked MIM#310400 Tags
Green Green List (high evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Charcot-Marie-Tooth disease, type 4B1, MIM#601382 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270 Tags
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Abetalipoproteinaemia MIM#200100 Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fetal akinesia deformation sequence 1 MIM#208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325 Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mevalonic aciduria, MIM#610377 Hyper-IgD syndrome, MIM#260920 Tags
Green Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cholestasis, progressive familial intrahepatic, 10, MIM#619868 Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850 Tags
Green Green List (high evidence)	MYO7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 1B, MIM# 276900 Tags
Green Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Schindler disease, type I MIM#609241 Schindler disease, type III MIM#609241 Tags
Green Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920 Tags
Green Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations N-acetylglutamate synthase deficiency MIM#237310 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Tags
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Nijmegen breakage syndrome (MIM#251260) Tags
Green Green List (high evidence)	NCF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lissencephaly 4 (with microcephaly), MIM#614019 Tags
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Norrie disease, MIM# 310600 Tags
Green Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Charcot-Marie-Tooth disease, type 4D MIM#601455 Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Green Green List (high evidence)	NDUFAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 1, MIM#252010 Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232) Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NEB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Arthrogryposis multiplex congenita 6 (MIM#619334) Nemaline myopathy 2, autosomal recessive (MIM#256030) Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sialidosis, type I, MIM #256550 Sialidosis, type II, MIM #256550 Tags
Green Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of deglycosylation, MIM#615273 Tags
Green Green List (high evidence)	NNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 MONDO:0013874 Tags
Green Green List (high evidence)	NPC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Niemann-Pick disease, type C1, MIM#257220 Tags
Green Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Niemann-pick disease, type C2, MIM#607625 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Nephronophthisis 1, juvenile MIM#256100 Joubert syndrome 4 MIM#609583 Senior-Loken syndrome-1 MIM#266900 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Renal-hepatic-pancreatic dysplasia 1 MIM#208540 Meckel syndrome 7 MIM#267010 Nephronophthisis 3 MIM#604387 Tags
Green Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Nephrotic syndrome, type 1, MIM# 256300 congenital nephrotic syndrome, Finnish type MONDO:0009732 Tags
Green Green List (high evidence)	NPHS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Nephrotic syndrome, type 2 MIM#600995 Tags
Green Green List (high evidence)	NR0B1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Adrenal hypoplasia, congenital, MIM#300200 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Insensitivity to pain, congenital, with anhidrosis MIM#256800 Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Dent disease 2 MIM#300555 Lowe syndrome MIM#309000 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 10 MIM#300804 Simpson-Golabi-Behmel syndrome, type 2 MIM#300209 Retinitis pigmentosa 23 MIM#300424 Tags
Green Green List (high evidence)	OPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Behr syndrome, MIM#210000 Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-methylglutaconic aciduria, type III MIM#258501 3-methylglutaconic aciduria type 3 MONDO:0009787 Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337 Tags
Green Green List (high evidence)	OSGEP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OSTM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteopetrosis, autosomal recessive 5, MIM#259720 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Ornithine transcarbamylase deficiency, MIM# 311250 Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteogenesis imperfecta, type VIII, MIM#610915 Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Phenylketonuria, MIM#261600 Tags
Green Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 30 MIM#300558 Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations HARP syndrome (MIM#607236) Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pyruvate carboxylase deficiency (MIM#266150) Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Propionicacidaemia, MIM#606054 Tags
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Propionicacidemia MIM#606054 propionic acidemia MONDO:0011628 Tags
Green Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 1F, MIM# 602083 Tags
Green Green List (high evidence)	PCDH19	2 reviews 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 Developmental and epileptic encephalopathy 9 (MIM#300088) Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PDHA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) Tags
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pyruvate dehydrogenase E1-beta deficiency, MIM #614111 Tags
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Prolidase deficiency, MIM# 170100 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100 Heimler syndrome 1, MIM #234580 Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539 MONDO:0100259 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Peroxisome biogenesis disorder 6B MIM#614871 Tags
Green Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859 Peroxisome biogenesis disorder 3B, MIM#266510 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883 Peroxisome biogenesis disorder 11B, MIM#614885 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Peroxisome biogenesis disorder 8B MIM#614877 Tags
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Peroxisome biogenesis disorder 5B, MIM#614867 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938 Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 2A (Zellweger), MIM#214110 Tags
Green Green List (high evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Peroxisome biogenesis disorder-4B, MIM# 614863 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease VII MIM#232800 Tags
Green Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Tags
Green Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Phosphoglycerate kinase 1 deficiency (MIM#300653) Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type It (MIM#614921) Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency 23, MIM# 615816 Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM# 300263 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neu-Laxova syndrome 1 MIM#256520 Phosphoglycerate dehydrogenase deficiency MIM#601815 Tags
Green Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Refsum disease MIM#266500 Tags
Green Green List (high evidence)	PIBF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 33 (MIM#617767) Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Polycystic kidney disease 4, with or without hepatic disease MIM#263200 Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neurodegeneration with brain iron accumulation 2B MIM#610217 Infantile neuroaxonal dystrophy 1 MIM#256600 Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400 Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Epilepsy, early-onset, vitamin B6-dependent, MIM#617290 Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Congenital disorder of glycosylation, type Ia (MIM#212065) Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ataxia-oculomotor apraxia 4, MIM# 616267 Microcephaly, seizures, and developmental delay, MIM# 613402 Tags
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukodystrophy, hypomyelinating, 11 MIM#616494 Treacher Collins syndrome 3 MIM#248390 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#61315 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750) Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pituitary hormone deficiency, combined or isolated, 1, MIM#613038 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Renpenning syndrome MIM#309500 Tags
Green Green List (high evidence)	PRDM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Brittle cornea syndrome 2, MIM#614170 Tags
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553 Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pituitary hormone deficiency, combined, 2, MIM#262600 Tags
Green Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395 Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900 Combined SAP deficiency, MIM #611721 Gaucher disease, atypical, MIM #610539 Krabbe disease, atypical, MIM #611722 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 BH4-deficient hyperphenylalaninemia A, MONDO:0009863 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Warburg micro syndrome 3 MIM#614222 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Carpenter syndrome MIM#201000 Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Warburg micro syndrome MONDO:0016649 Tags
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined cellular and humoral immune defects with granulomas (MIM#233650) Omenn syndrome (MIM#603554) Severe combined immunodeficiency, B cell-negative (MIM#601457) Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326 Fetal akinesia deformation sequence 2 MIM#618388 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 6, MIM#611523 Tags
Green Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microphthalmia, syndromic 16, MIM #611038 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Jawad syndrome MIM#251255 Seckel syndrome 2 MIM#606744 Tags
Green Green List (high evidence)	RDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 13, MIM#612712 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 11, MIM#614922 Tags
Green Green List (high evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cartilage-hair hypoplasia MIM#250250 Anauxetic dysplasia 1, MIM#607095 Metaphyseal dysplasia without hypotrichosis MIM#250460 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 4 MIM#610333 RNASEH2A-related type 1 interferonopathy MONDO:0700259 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Retinitis pigmentosa 2, MIM #312600 Tags
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Retinitis pigmentosa 20, MIM#613794 Leber congenital amaurosis 2, MIM#204100 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Ciliopathy, RPGRIP1L-related, MONDO:0005308 Tags
Green Green List (high evidence)	RPS6KA3	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 Mackenzie's Mission Disease associations Coffin-Lowry syndrome, MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dyskeratosis congenita, autosomal recessive 5, MIM#615190 Tags
Green Green List (high evidence)	RYR1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Central core disease (MIM#117000) Minicore myopathy with external ophthalmoplegia (MIM#255320) Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spastic ataxia, Charlevoix-Saguenay type, MIM#270550 Tags SV/CNV
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 16 (MIM# 615993) Senior-Loken syndrome 7 (MIM# 613615) Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dyserythropoietic anemia, congenital, type II MIM#224100 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteogenesis imperfecta, type X, MIM# 613848 Osteogenesis imperfecta type 10, MONDO:0013459 Tags
Green Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968 Tags
Green Green List (high evidence)	SGCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 Tags
Green Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Green Green List (high evidence)	SGCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SH3TC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Charcot-Marie-Tooth disease, type 4C MIM#601596 Tags
Green Green List (high evidence)	SKIC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Trichohepatoenteric syndrome 2, MIM# 614602 Tags
Green Green List (high evidence)	SKIC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Trichohepatoenteric syndrome 1 MIM#222470 Tags
Green Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bartter syndrome, type 1, MIM#601678 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Allan-Herndon-Dudley syndrome, MIM #300523 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sialic acid storage disorder, infantile (MIM#269920) Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 Tags
Green Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197 Tags
Green Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Citrullinemia, type II, neonatal-onset, MIM#605814 Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green Green List (high evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Achondrogenesis Ib MIM#600972 Atelosteogenesis, type II MIM#256050 De la Chapelle dysplasia MIM#256050 Diastrophic dysplasia MIM#222600 Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600 Epiphyseal dysplasia, multiple, 4 MIM#226900 Tags
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Diarrhea 1, secretory chloride, congenital, 214700 (3) Tags
Green Green List (high evidence)	SLC35A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Arthrogryposis, impaired intellectual development, and seizures MIM#615553 Tags
Green Green List (high evidence)	SLC37A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Glycogen storage disease Ib MIM#232220 Glycogen storage disease Ic MIM#232240 Glycogen Storage Disease I MONDO:0002413 Tags
Green Green List (high evidence)	SLC38A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218) Tags
Green Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Acrodermatitis enteropathica, MIM# 201100 Tags
Green Green List (high evidence)	SLC45A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Albinism, oculocutaneous, type IV MIM#606574 Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Brown-Vialetto-Van Laere syndrome 1, MIM#211530 Tags
Green Green List (high evidence)	SLC6A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hyperekplexia 3, MIM#614618 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebral creatine deficiency syndrome 1, MIM#300352 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lysinuric protein intolerance, MIM#222700 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Schimke immunoosseous dysplasia, MIM# 242900 Tags
Green Green List (high evidence)	SMN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Niemann-Pick disease, type A, MIM#257200 Niemann-Pick disease, type B, MIM#607616 Tags
Green Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Tags
Green Green List (high evidence)	SPG11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPINK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Netherton syndrome, MIM#256500 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Salt and pepper developmental regression syndrome, MIM# 609056 Tags
Green Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lipoid adrenal hyperplasia MIM#201710 Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 Tags
Green Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101 Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Multiple sulfatase deficiency, MIM#272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Sulfite oxidase deficiency, MIM#272300 Tags
Green Green List (high evidence)	SURF1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Green Green List (high evidence)	SYN1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491 Intellectual developmental disorder, X-linked 50, MIM#300115 Tags
Green Green List (high evidence)	TAFAZZIN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Barth syndrome, MIM#302060 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Tags SV/CNV
Green Green List (high evidence)	TAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Tyrosinaemia, type II, MIM# 276600, MONDO:0010160 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 11 MIM#617695 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410 Kenny-Caffey syndrome, type 1 MIM#244460 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Transcobalamin II deficiency MIM#275350 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 MONDO:0009794 Tags
Green Green List (high evidence)	TECPR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations You-Hoover-Fong syndrome, MIM#616954 Tags
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Atransferrinaemia MIM#209300 Tags
Green Green List (high evidence)	TGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ichthyosis, congenital, autosomal recessive 1, MIM#242300 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Segawa syndrome, recessive, MIM# 605407 Tags
Green Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 16, MIM#614465 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 20, MIM#614970 Meckel syndrome 11, MIM#615397 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Joubert syndrome 14, MIM#614424 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Lissencephaly 8 MIM#617255, MONDO:0014992 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 7 MIM#614969 Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270 Tags
Green Green List (high evidence)	TRDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165 Tags
Green Green List (high evidence)	TRIM32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mulibrey nanism MIM#253250 Tags
Green Green List (high evidence)	TRMU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Liver failure, transient infantile MIM# 613070 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111 Tags
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypomagnesemia 1, intestinal MIM#602014 Tags
Green Green List (high evidence)	TSEN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia type 2B, MIM #612389 Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia type 2A (MIM#277470) Pontocerebellar hypoplasia type 4 (MIM#225753) ?Pontocerebellar hypoplasia type 5 (MIM#610204) Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hypothyroidism, congenital, nongoitrous 4 MIM#275100 Tags
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bardet-Biedl syndrome 8, MIM #615985 Tags
Green Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Ataxia with isolated vitamin E deficiency MIM#277460 Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leber congenital amaurosis 15, MIM#613843 Retinitis pigmentosa 14, MIM#600132 Tags
Green Green List (high evidence)	TWNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245 Perrault syndrome 5, MIM#616138 Tags
Green Green List (high evidence)	TYMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041 Tags
Green Green List (high evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Oculocutaneous albinism type 1 (MONDO:0018135) Albinism, oculocutaneous, type IA, MIM#203100 Albinism, oculocutaneous, type IB, MIM#606952 Tags
Green Green List (high evidence)	TYRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Albinism, oculocutaneous, type III MIM#203290 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Developmental and epileptic encephalopathy 44, MIM#617132 Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Fanconi anemia, complementation group T MIM#616435 Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Johanson-Blizzard syndrome MIM#243800 Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I MIM#218800 Crigler-Najjar syndrome, type II MIM#606785 Tags
Green Green List (high evidence)	UNC13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 Tags
Green Green List (high evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked syndromic 14 MIM#300676 Tags
Green Green List (high evidence)	USH1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 1C MIM# 276904, MONDO:0010171 Tags
Green Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 1G MIM#606943 Tags
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 2A, MIM#276901 Tags
Green Green List (high evidence)	USP9X	2 reviews	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 Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 99, MIM#300919 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050 Tags
Green Green List (high evidence)	VPS11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Leukodystrophy, hypomyelinating, 12 MIM#616683 Tags
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cohen syndrome, MIM# 216550 Tags
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866 Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Neutropenia, severe congenital, X-linked, MIM#300299 Thrombocytopenia, X-linked, MIM#313900 Wiskott-Aldrich syndrome, MIM#301000 Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430 Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794 Tags
Green Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Usher syndrome, type 2D MIM#611383 Tags
Green Green List (high evidence)	WRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Werner syndrome, MIM#277700 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322 Developmental and epileptic encephalopathy 28, MIM# 616211 Tags
Green Green List (high evidence)	XIAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Lymphoproliferative syndorme, X-linked, 2 MIM#300635 Tags
Green Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Xeroderma pigmentosum, group A , MIM#278700 Tags
Green Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Xeroderma pigmentosum, group C, MIM#278720 Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069 MONDO:0013553 Tags
Green Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427 Tags SV/CNV
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Green Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Disease associations Intellectual developmental disorder, X-linked 97, MIM# 300803 Tags
Amber Amber List (moderate evidence)	CLN3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Disease associations Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Red Red List (low evidence)	GNE	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Disease associations Nonaka myopathy MIM#605820 Thrombocytopenia 12 with or without myopathy MIM#620757 Tags
Red Red List (low evidence)	GPR143	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Disease associations Nystagmus 6, congenital, X-linked, MIM#300814 Ocular albinism, type I, Nettleship-Falls type, MIM#300500 Tags

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