Syndromic Retinopathy (Version 1.0)

Description

This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.

Consider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.

Panel Activity

23 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Manny Jacobs (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Chern Lim (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

141 Entities

141 reviewed, 118 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 141 Entitiess
Green Green List (high evidence)	ABCC6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Pseudoxanthoma elasticum, MIM#264800 Tags SV/CNV
Green Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 Tags
Green Green List (high evidence)	ACBD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Disease associations Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green Green List (high evidence)	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ADAMTS18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations microcornea-myopic chorioretinal atrophy (MONDO:0014195) Tags
Green Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Joubert syndrome 3, MIM# 608629 Tags
Green Green List (high evidence)	AIRE	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Green Green List (high evidence)	ALMS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Alstrom syndrome Tags
Green Green List (high evidence)	ALPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Tags
Green Green List (high evidence)	ARL13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 8 MIM#612291 Tags
Green Green List (high evidence)	ARL2BP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434 Tags
Green Green List (high evidence)	ARL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Joubert syndrome 35 MIM#618161 Tags
Green Green List (high evidence)	ATXN7_SCA7_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 7 MIM#164500 Tags
Green Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet 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)	CDK9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160 CHARGE-like syndrome with retinal dystrophy Tags
Green Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Meckel syndrome 4, 611134 Senior-Loken syndrome 6, 610189 Bardet-Biedl syndrome 14, 209900 Leber congenital amaurosis 10, 611755 Joubert syndrome 5, 610188 Tags
Green Green List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green Green List (high evidence)	CLCN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with ataxia MIM# 615651 Tags
Green Green List (high evidence)	CLN3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Juvenile neuronal ceroid lipofuscinosis Retinitis pigmentosa Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 5 OMIM #256731 Tags
Green Green List (high evidence)	CLN6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 6 OMIM #601780 Tags
Green Green List (high evidence)	CLN8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Tags
Green Green List (high evidence)	CNNM4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Jalili syndrome MIM#217080 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Disease associations Stickler syndrome, type II, MIM#604841 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Disease associations Stickler syndrome, type I Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Genetic Retinal Degeneration Conditions Joubert syndrome 21 Tags
Green Green List (high evidence)	CTC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Tags
Green Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Tags
Green Green List (high evidence)	CTSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Tags
Green Green List (high evidence)	CYP2U1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Spastic paraplegia 56, autosomal recessive, OMIM:615030 Tags
Green Green List (high evidence)	DDX41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green Green List (high evidence)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cockayne syndrome, type B MIM#133540 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Cockayne syndrome, type A MIM#216400 Tags
Green Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Disease associations Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Mucolipidosis III gamma Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	GPATCH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green Green List (high evidence)	GRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Tags
Green Green List (high evidence)	HCCS	1 review 1 green	Other	Sources Expert list Expert Review Green Disease associations Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green Green List (high evidence)	HGSNAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 73 Tags
Green Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Oculoauricular syndrome, MIM#612109 Tags
Green Green List (high evidence)	IFT140	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 80 Tags
Green Green List (high evidence)	IKBKG	1 review 1 green	Other	Sources Expert list Expert Review Green Disease associations Incontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	INTS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Tags
Green Green List (high evidence)	IQCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Leber congenital amaurosis Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	JAG1	2 reviews 1 green	Unknown	Sources Expert Review Green Literature RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Poretti-Boltshauser syndrome, MIM# 615960 Tags
Green Green List (high evidence)	LRP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Donnai-Barrow syndrome MIM#222448 Tags
Green Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Exudative vitreoretinopathy 4 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mannosidosis, alpha-, types I and II, MIM# 248500 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags
Green Green List (high evidence)	MED12	3 reviews 3 green	Other	Sources Expert Review Green Literature Disease associations Hardikar syndrome, MIM# 301068 Tags
Green Green List (high evidence)	MFSD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 7 OMIM #610951 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green Green List (high evidence)	MORC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green Green List (high evidence)	MSTO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green Green List (high evidence)	MT-TR	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TT	2 reviews 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TW	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TY	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Abetalipoproteinemia, MIM# 200100 Tags treatable
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHP3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	OFD1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 23, 300424 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804 Tags
Green Green List (high evidence)	OPA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Autosomal Dominant Optic Atrophy Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green Green List (high evidence)	PAX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Papillorenal syndrome, MIM# 120330 Tags
Green Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Heimler syndrome 1, 234580 Tags
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Refsum disease Tags
Green Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Refsum disease Tags
Green Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green Green List (high evidence)	PNPLA6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Disease associations Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 Tags
Green Green List (high evidence)	POC1B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Disease associations Cone-rod dystrophy 20, 615973 Tags
Green Green List (high evidence)	POLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Tags
Green Green List (high evidence)	PRPS1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RDH11	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Tags
Green Green List (high evidence)	RIMS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Tags
Green Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Roifman syndrome, MIM# 616651 Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Tags
Green Green List (high evidence)	SCAPER	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Expert Review Red Literature Disease associations Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Tags
Green Green List (high evidence)	SCLT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet Biedl syndrome Senior-Loken syndrome Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Tags
Green Green List (high evidence)	SLC25A46	1 review 1 green	Unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SRD5A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iq MIM#612379 Tags
Green Green List (high evidence)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green Green List (high evidence)	STX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Retinal dystrophy and microvillus inclusion disease, MIM#619446 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 1 green	Unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Revesz syndrome, 268130 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Joubert syndrome 2, MIM# 608091 Tags
Green Green List (high evidence)	TMEM218	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 39, MIM#619562 retinal dystrophy polycystic kidneys occipital encephalocele Tags
Green Green List (high evidence)	TMEM231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 20 MIM#614970 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TOMM7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Green Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Tags
Green Green List (high evidence)	TRAF3IP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TREX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315 Tags
Green Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	TTPA	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green NHS GMS RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TUBB4B	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Leber congenital amaurosis with early-onset deafness MIM#617879 Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related Tags
Green Green List (high evidence)	TUBGCP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Tags
Green Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270 Tags
Green Green List (high evidence)	VCAN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Disease associations Wagner Syndrome Tags
Green Green List (high evidence)	VPS13B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Cohen syndrome MIM#216550 Tags
Green Green List (high evidence)	WDPCP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WFS1	2 reviews 2 green	Unknown	Sources Expert Review Green RetNet Tags
Green Green List (high evidence)	ZFYVE26	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Amber Amber List (moderate evidence)	ADIPOR1	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Royal Melbourne Hospital Disease associations syndromic retinitis pigmentosa non-syndromic autosomal dominant retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	AGPAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
Amber Amber List (moderate evidence)	ARMC9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 30 MIM#617622 Tags
Amber Amber List (moderate evidence)	EXOSC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber RetNet Victorian Clinical Genetics Services Disease associations Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Amber Amber List (moderate evidence)	HACE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber Amber List (moderate evidence)	HBS1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinal disorder MONDO:0005283 Tags
Amber Amber List (moderate evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Tags
Amber Amber List (moderate evidence)	INVS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Nephronophthisis 2, infantile, MIM#602088 Tags
Amber Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	MFN2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Tags
Amber Amber List (moderate evidence)	MPDZ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Tags
Amber Amber List (moderate evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Peroxisome biogenesis disorder 7B MIM#614873 Tags
Amber Amber List (moderate evidence)	POC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations retinitis pigmentosa short stature microcephaly recurrent glomerulonephritis Tags
Amber Amber List (moderate evidence)	TMEM107	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 29 MIM#617562 Orofaciodigital syndrome XVI MIM#617563 Tags
Amber Amber List (moderate evidence)	TUB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Retinal dystrophy and obesity, MIM# 616188 Tags
Red Red List (low evidence)	AFG3L2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red RetNet Victorian Clinical Genetics Services Disease associations Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Red Red List (low evidence)	DTHD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Leber congenital amaurosis with muscle dystrophy Tags
Red Red List (low evidence)	ELOVL4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red RetNet Disease associations Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Tags
Red Red List (low evidence)	HARS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Victorian Clinical Genetics Services Disease associations Usher syndrome type 3B Tags refuted
Red Red List (low evidence)	PAK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Disease associations Knobloch syndrome 2 MIM#618458 Tags
Red Red List (low evidence)	PISD	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Liberfarb syndrome MIM#618889 Tags
Red Red List (low evidence)	ZNF423	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Royal Melbourne Hospital Disease associations Joubert syndrome 19 (MIM#614844) Tags
No list No list	ATXN7	1 review 1 green	Unknown	Sources Expert list Expert Review Removed RetNet Tags STR

Syndromic Retinopathy (Version 1.0)

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