Syndromic Retinopathy (Version 0.219)

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

20 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)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

129 Entities

128 reviewed, 109 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 129 Entitiess
Green List (high evidence)	ABCC6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Pseudoxanthoma elasticum, MIM#264800 Tags SV/CNV
Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Tags
Green List (high evidence)	ACBD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Phenotypes Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green List (high evidence)	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green List (high evidence)	ADAMTS18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes microcornea-myopic chorioretinal atrophy (MONDO:0014195) Tags
Green List (high evidence)	AFG3L2	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Joubert syndrome 17 Tags
Green List (high evidence)	AIRE	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Green List (high evidence)	ALMS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Alstrom syndrome Tags
Green List (high evidence)	ALPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Tags
Green List (high evidence)	ARL13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 8 MIM#612291 Tags
Green List (high evidence)	ARL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 35 MIM#618161 Tags
Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845 Tags
Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes 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 List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green List (high evidence)	CLCN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia MIM# 615651 Tags
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 Phenotypes Juvenile neuronal ceroid lipofuscinosis Retinitis pigmentosa Tags
Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM #256731 Tags
Green List (high evidence)	CLN6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6 OMIM #601780 Tags
Green List (high evidence)	CLN8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Tags
Green List (high evidence)	CNNM4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Jalili syndrome MIM#217080 Tags
Green List (high evidence)	COL11A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Phenotypes Stickler syndrome, type II, MIM#604841 Tags
Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Phenotypes Stickler syndrome, type I Tags
Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Genetic Retinal Degeneration Conditions Joubert syndrome 21 Tags
Green List (high evidence)	CTC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Tags
Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Tags
Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Tags
Green List (high evidence)	CTSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Tags
Green List (high evidence)	ELOVL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Phenotypes Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Tags
Green List (high evidence)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cockayne syndrome, type B MIM#133540 Tags
Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A MIM#216400 Tags
Green List (high evidence)	EXOSC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Mucolipidosis III gamma Genetic Retinal Degeneration Conditions Tags
Green List (high evidence)	GPATCH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green List (high evidence)	GRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Tags
Green List (high evidence)	HCCS	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green List (high evidence)	HGSNAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 73 Tags
Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Oculoauricular syndrome, MIM#612109 Tags
Green List (high evidence)	IFT140	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 80 Tags
Green List (high evidence)	IKBKG	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Incontinentia pigmenti, MIM# 308300 Tags
Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	INTS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Tags
Green List (high evidence)	IQCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Leber congenital amaurosis Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green List (high evidence)	JAG1	2 reviews 1 green	Unknown	Sources Expert Review Green Literature RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	KIF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Poretti-Boltshauser syndrome, MIM# 615960 Tags
Green List (high evidence)	LRP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Donnai-Barrow syndrome MIM#222448 Tags
Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Exudative vitreoretinopathy 4 Tags
Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 Tags
Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags
Green List (high evidence)	MED12	3 reviews 3 green	Other	Sources Expert Review Green Literature Phenotypes Hardikar syndrome, MIM# 301068 Tags
Green List (high evidence)	MFSD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7 OMIM #610951 Tags
Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green List (high evidence)	MORC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green List (high evidence)	MSTO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Abetalipoproteinemia, MIM# 200100 Tags treatable
Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
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 List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
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 Phenotypes Retinitis pigmentosa 23, 300424 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804 Tags
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 Phenotypes Autosomal Dominant Optic Atrophy Tags
Green List (high evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes HARP syndrome Neurodegeneration with brain iron accumulation 1 Tags
Green List (high evidence)	PAX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Phenotypes Papillorenal syndrome, MIM# 120330 Tags
Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Heimler syndrome 1, 234580 Tags
Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Tags
Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Refsum disease Tags
Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Refsum disease Tags
Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green List (high evidence)	PNPLA6	3 reviews 3 green	Unknown	Sources Expert list Expert Review Green RetNet Tags
Green List (high evidence)	POC1B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green RetNet Phenotypes Cone-rod dystrophy 20, 615973 Tags
Green List (high evidence)	POLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Telomere biology syndrome MONDO:0100137 Tags
Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Tags
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 List (high evidence)	RIMS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Tags
Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Roifman syndrome, MIM# 616651 Lowry-Wood syndrome, MIM# 226960 Tags
Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Phenotypes Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Tags
Green List (high evidence)	SCA7 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags
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 Phenotypes Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Tags
Green List (high evidence)	SCLT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet Biedl syndrome Senior-Loken syndrome Tags
Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Tags
Green List (high evidence)	SLC25A46	1 review 1 green	Unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	SRD5A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq MIM#612379 Tags
Green List (high evidence)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green List (high evidence)	STX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Retinal dystrophy and microvillus inclusion disease, MIM#619446 Tags
Green List (high evidence)	TIMM8A	2 reviews 1 green	Unknown	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Revesz syndrome, 268130 Tags
Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Joubert syndrome 2, MIM# 608091 Tags
Green List (high evidence)	TMEM218	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, MIM#619562 retinal dystrophy polycystic kidneys occipital encephalocele Tags
Green List (high evidence)	TMEM231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20 MIM#614970 Tags
Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Tags
Green List (high evidence)	TRAF3IP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green List (high evidence)	TREX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315 Tags
Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
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 List (high evidence)	TUBB4B	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis with early-onset deafness MIM#617879 Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related Tags
Green List (high evidence)	TUBGCP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Tags
Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270 Tags
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 Phenotypes Wagner Syndrome Tags
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 Phenotypes Cohen syndrome MIM#216550 Tags
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 List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Tags
Green List (high evidence)	WFS1	2 reviews 2 green	Unknown	Sources Expert Review Green RetNet Tags
Green List (high evidence)	ZFYVE26	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Amber List (moderate evidence)	ADIPOR1	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Royal Melbourne Hospital Phenotypes syndromic retinitis pigmentosa non-syndromic autosomal dominant retinitis pigmentosa Tags
Amber List (moderate evidence)	AGPAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
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 Phenotypes Joubert syndrome 30 MIM#617622 Tags
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 Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber List (moderate evidence)	HBS1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinal disorder MONDO:0005283 Tags
Amber List (moderate evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Tags
Amber List (moderate evidence)	INVS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Nephronophthisis 2, infantile, MIM#602088 Tags
Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber List (moderate evidence)	MFN2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Tags
Amber List (moderate evidence)	MPDZ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Tags
Amber List (moderate evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Peroxisome biogenesis disorder 7B MIM#614873 Tags
Amber List (moderate evidence)	POC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes retinitis pigmentosa short stature microcephaly recurrent glomerulonephritis Tags
Amber List (moderate evidence)	RDH11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Tags
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 Phenotypes Joubert syndrome 29 MIM#617562 Orofaciodigital syndrome XVI MIM#617563 Tags
Amber List (moderate evidence)	TUB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Retinal dystrophy and obesity, MIM# 616188 Tags
Red List (low evidence)	DTHD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Leber congenital amaurosis with muscle dystrophy Tags
Red List (low evidence)	HARS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Victorian Clinical Genetics Services Phenotypes Usher syndrome type 3B Tags
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 Phenotypes Liberfarb syndrome MIM#618889 Tags
Red List (low evidence)	ZNF423	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Royal Melbourne Hospital Phenotypes Joubert syndrome 19 (MIM#614844) Tags
No list	ATXN7	1 review 1 green	Unknown	Sources Expert list Expert Review Removed RetNet Tags STR

Syndromic Retinopathy (Version 0.219)

20 reviewers

129 Entities

128 reviewed, 109 green

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1 review

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