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13 Mar 2026	Cataract v0.631	WDR59	Zornitza Stark gene: WDR59 was added gene: WDR59 was added to Cataract. Sources: Expert Review Amber,Literature founder tags were added to gene: WDR59. Mode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR59 were set to 41715954 Phenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254
24 Feb 2026	Cataract v0.629	MIR204	Zornitza Stark gene: MIR204 was added gene: MIR204 was added to Cataract. Sources: Expert Review Green,Literature non-coding gene tags were added to gene: MIR204. Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Mode of pathogenicity for gene: MIR204 was set to Other
21 Feb 2026	Cataract v0.628	ELP4	Bryony Thompson gene: ELP4 was added gene: ELP4 was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655 Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246 Mode of pathogenicity for gene: ELP4 was set to Other
20 Feb 2026	Cataract v0.627	CRYBA2	Bryony Thompson gene: CRYBA2 was added gene: CRYBA2 was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710 Phenotypes for gene: CRYBA2 were set to cataract MONDO:0005129
12 Feb 2026	Cataract v0.625	ZEB2	Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZEB2 were set to 36676725; 25899569 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, MIM# 235730 Review for gene: ZEB2 was set to AMBER Added comment: PMID 25899569 reports four unrelated families with heterozygous loss‑of‑function ZEB2 variants causing Mowat‑Wilson syndrome; one of these families had cataract. PMID 36676725 reports one unrelated family with a de novo nonsense ZEB2 variant presenting with bilateral developmental cataract as part of Mowat‑Wilson syndrome. Sources: Literature
12 Feb 2026	Cataract v0.623	VCAN	Zornitza Stark gene: VCAN was added gene: VCAN was added to Cataract. Sources: Literature Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VCAN were set to 36333947; 29071374 Phenotypes for gene: VCAN were set to Wagner syndrome 1, MIM# 143200 Review for gene: VCAN was set to AMBER Added comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment). Sources: Literature
11 Feb 2026	Cataract v0.621	TENM3	Zornitza Stark gene: TENM3 was added gene: TENM3 was added to Cataract. Sources: Literature Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 36911040; 32799327 Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM# 615145 Review for gene: TENM3 was set to AMBER Added comment: PMID 32799327 reports a family with a homozygous nonsense TENM3 variant causing congenital cataract, microphthalmia and coloboma. PMID 36911040 reports 2 unrelated families with biallelic TENM3 variants; family 1 has congenital cataract, microphthalmia, microcephaly and developmental delay, family 2 has esotropia with speech and motor delay. Sources: Literature
11 Feb 2026	Cataract v0.619	SIX6	Zornitza Stark gene: SIX6 was added gene: SIX6 was added to Cataract. Sources: Literature Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIX6 were set to 35693420 Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550 Review for gene: SIX6 was set to AMBER Added comment: PMID 35693420 reports four individuals from two unrelated consanguineous families with biallelic SIX6 variants (c.547G>C p.Asp183His missense; c.-227_572+235del1034 exon‑1 deletion) presenting with congenital cataract, microcornea, corneal opacification and variable iris coloboma or microphthalmia. The variants segregate with disease, are absent from population databases, and in silico structural modelling predicts loss‑of‑function. Sources: Literature
11 Feb 2026	Cataract v0.617	MFRP	Zornitza Stark gene: MFRP was added gene: MFRP was added to Cataract. Sources: Literature Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFRP were set to 36605040 Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040 Review for gene: MFRP was set to AMBER Added comment: PMID 36605040 reports 2 individuals from 2 unrelated families with biallelic canonical splice-site MFRP variants presenting with nanophthalmos, high hyperopia, retinitis pigmentosa, and early-onset cataract (nuclear sclerotic). Sources: Literature
11 Feb 2026	Cataract v0.615	MAFA	Zornitza Stark gene: MAFA was added gene: MAFA was added to Cataract. Sources: Literature Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFA were set to 29339498 Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, MIM# 147630 Review for gene: MAFA was set to AMBER Added comment: PMID 29339498 reports a heterozygous MAFA p.Ser64Phe gain‑of‑function missense variant in two unrelated families with autosomal dominant insulinomatosis/diabetes and in the index family four individuals with congenital cataract (±glaucoma). Sources: Literature
10 Feb 2026	Cataract v0.613	JAG1	Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Cataract. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JAG1 were set to 40257159; 37337769; 32883240 Phenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM# 118450 Review for gene: JAG1 was set to GREEN Added comment: Cataract is a recognised feature of the condition. Sources: Literature
10 Feb 2026	Cataract v0.611	DYNC1H1	Zornitza Stark gene: DYNC1H1 was added gene: DYNC1H1 was added to Cataract. Sources: Literature Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 27754416; 27331017 Phenotypes for gene: DYNC1H1 were set to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Review for gene: DYNC1H1 was set to AMBER Added comment: PMID 27331017 reports 1 individual with a de novo heterozygous missense DYNC1H1 variant (p.G3658E) presenting with severe malformation of cortical development and bilateral congenital cataract. PMID 27754416 reports a second individual with a de novo heterozygous missense DYNC1H1 variant (p.R2332C) presenting with congenital cataracts, polymicrogyria, developmental delay, gut dysmotility and sensory neuropathy. Sources: Literature
10 Feb 2026	Cataract v0.609	CWC27	Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Cataract. Sources: Literature Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWC27 were set to 38840272; 31481716 Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Review for gene: CWC27 was set to AMBER Added comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism). Sources: Literature
10 Feb 2026	Cataract v0.607	ARCN1	Zornitza Stark gene: ARCN1 was added gene: ARCN1 was added to Cataract. Sources: Literature Mode of inheritance for gene: ARCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARCN1 were set to 35300924 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Review for gene: ARCN1 was set to AMBER Added comment: PMID 35300924 reports 4 individuals from 2 unrelated families with biallelic loss-of-function ARCN1 variants presenting with cataract (onset infancy to early adolescence) as part of ARCN1‑related syndrome. Sources: Literature
10 Feb 2026	Cataract v0.605	ZBTB11	Zornitza Stark gene: ZBTB11 was added gene: ZBTB11 was added to Cataract. Sources: Literature Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 38899514 Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, MIM# 618383 Review for gene: ZBTB11 was set to GREEN Added comment: PMID 38899514 reports 29 individuals from 17 unrelated families with biallelic ZBTB11 variants. All affected have neurodevelopmental delay/intellectual disability; 10 patients present with bilateral cataracts. Sources: Literature
10 Feb 2026	Cataract v0.602	VPS13B	Zornitza Stark gene: VPS13B was added gene: VPS13B was added to Cataract. Sources: Literature Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 40813981; 37901634; 32915983 Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM# 216550 Review for gene: VPS13B was set to GREEN Added comment: PMID 32915983 reports two adult siblings with Cohen syndrome and bilateral nuclear‑sclerotic cataracts; PMID 37901634 reports a 39‑year‑old male with Cohen syndrome, early adult‑onset cataract and two novel VPS13B variants (c.5138T>C missense, c.10179del frameshift); PMID 40813981 reports a 24‑year‑old male with Cohen syndrome, bilateral cataract, spherical lenses, lens subluxation and retinitis pigmentosa carrying a homozygous splice‑site VPS13B variant (c.6865+1G>T). Functional mouse knockout models (Vps13bΔEx3/ΔEx3) develop early‑onset hypermature cataracts, supporting a causal link. Sources: Literature
10 Feb 2026	Cataract v0.600	USP9X	Zornitza Stark gene: USP9X was added gene: USP9X was added to Cataract. Sources: Literature Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 38099911; 37895297 Phenotypes for gene: USP9X were set to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM# 300968 Review for gene: USP9X was set to GREEN Added comment: PMID 37895297 reports three unrelated female families with heterozygous loss‑of‑function USP9X variants (splice c.1314+2T>C, nonsense c.121G>T, frameshift c.1603dupA) presenting with Axenfeld–Rieger anomaly, congenital glaucoma, corneal neovascularization and cataract (two cases). PMID 38099911 reports an additional unrelated family with a heterozygous USP9X c.799_802del deletion causing bilateral cataracts, posterior lentiglobus and multiple systemic anomalies. Sources: Literature
10 Feb 2026	Cataract v0.598	TRNT1	Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 36937953; 34864912; 27389523 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Review for gene: TRNT1 was set to GREEN Added comment: PMID 27389523 reports three affected siblings from one family with childhood cataract, inner retinal dysfunction, immunodeficiency and a homozygous missense TRNT1 p.Arg99Trp variant. PMID 34864912 describes a 49‑year‑old male with congenital cataract, recurrent infections, B‑cell immunodeficiency, periodic fevers and hypergonadotropic hypogonadism carrying the same homozygous p.Arg99Trp variant. PMID 36937953 presents three unrelated patients from two families with sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, developmental delay and bilateral cataracts caused by compound heterozygous TRNT1 variants (c.1246A>G/p.K416E, c.1056+1G>A, c.574C>T/p.Q192*, c.464T>C/p.I155T). Across the three papers there are seven patients from four unrelated families with biallelic loss‑of‑function TRNT1 variants and a consistent phenotype that includes cataract. Sources: Literature
10 Feb 2026	Cataract v0.596	TRAPPC11	Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Cataract. Sources: Literature Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 34648194; 26322222 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356 Review for gene: TRAPPC11 was set to GREEN Added comment: PMID 26322222 and PMID 34648194 together describe five individuals from five unrelated families with biallelic loss‑of‑function TRAPPC11 variants. The affected individuals present with congenital/early‑onset muscular dystrophy, infantile‑onset cataract, markedly elevated CK, and multisystem involvement (fatty liver in one family and severe α‑dystroglycan hypoglycosylation in muscle). Sources: Literature
10 Feb 2026	Cataract v0.594	TOR1AIP1	Zornitza Stark gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 32055997; 30723199 Phenotypes for gene: TOR1AIP1 were set to Syndromic disease, MONDO:0002254, TOR1AIP1-related Review for gene: TOR1AIP1 was set to GREEN Added comment: PMID 30723199 reports 7 individuals from 5 unrelated families with biallelic nonsense TOR1AIP1 (c.961C>T) variants presenting with congenital bilateral cataract, severe neurodevelopmental impairment, intra‑uterine growth retardation, microcephaly, sensorineural deafness and cardiac defects. PMID 32055997 adds 2 unrelated individuals from 2 families carrying compound‑heterozygous loss‑of‑function TOR1AIP1 variants (frameshift + missense or nonsense + frameshift) with a closely overlapping multisystemic phenotype that also includes cataract, hearing loss, cardiac disease and muscular atrophy. Note gene has been associated with multiple phenotypes, predominantly muscle-related; described as 'envelopathy' in some papers. Sources: Literature
10 Feb 2026	Cataract v0.592	TONSL	Zornitza Stark gene: TONSL was added gene: TONSL was added to Cataract. Sources: Literature Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TONSL were set to 30773277 Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510 Review for gene: TONSL was set to GREEN Added comment: PMID 30773277 reports 9 individuals from 8 unrelated families with bi‑allelic TONSL variants causing Sponastrime dysplasia, a skeletal dysplasia characterised by disproportionate short stature, platyspondyly, metaphyseal striations and, in three families, childhood bilateral cataracts. Sources: Literature
10 Feb 2026	Cataract v0.590	TKT	Zornitza Stark gene: TKT was added gene: TKT was added to Cataract. Sources: Literature Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKT were set to 27259054 Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, MIM# 617044 Review for gene: TKT was set to GREEN Added comment: Cataracts are reported as part of this condition. Sources: Literature
10 Feb 2026	Cataract v0.588	TELO2	Zornitza Stark gene: TELO2 was added gene: TELO2 was added to Cataract. Sources: Literature Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 37215500; 36797513; 28944240 Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM# 616954 Review for gene: TELO2 was set to GREEN Added comment: Multiple individuals reported with cataract as part of the phenotype. Sources: Literature
10 Feb 2026	Cataract v0.587	SLC7A8	Zornitza Stark gene: SLC7A8 was added gene: SLC7A8 was added to Cataract. Sources: Literature Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A8 were set to 40229141; 31231240 Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related Review for gene: SLC7A8 was set to RED Added comment: PMID 31231240 reports 2 affected siblings with autosomal recessive congenital bilateral sutural and zonular cataract caused by a homozygous frameshift c.1305del (p.Phe436Serfs*22) that abolishes LAT2 transport activity in HeLa cells. PMID 40229141 reports a single child from an unrelated family with compound heterozygous SLC7A8 variants (c.1017-1G>T splice-site and c.289G>A missense) and cataract; a minigene assay shows exon skipping for the splice variant. No other functional data, one of the variants is homozygous, hence RED rating. Sources: Literature
10 Feb 2026	Cataract v0.585	SEC23A	Zornitza Stark gene: SEC23A was added gene: SEC23A was added to Cataract. Sources: Literature Mode of inheritance for gene: SEC23A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 38275611; 37828500; 34580982 Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, MIM# 607812 Review for gene: SEC23A was set to GREEN Added comment: Cataracts are reported in individuals with both dominant and recessive disease, but appear more common in recessive disease. Sources: Literature
10 Feb 2026	Cataract v0.583	RRAGA	Zornitza Stark gene: RRAGA was added gene: RRAGA was added to Cataract. Sources: Literature Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAGA were set to 27294265 Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related Review for gene: RRAGA was set to AMBER Added comment: PMID 27294265 reports 11 individuals from 3 unrelated families with heterozygous RRAGA variants presenting with autosomal dominant cataracts (juvenile-onset progressive posterior subcapsular cataract in 10 patients from 2 families; congenital nuclear cataract in 1 patient). The missense p.Leu60Arg co‑segregates with disease (LOD 2.975) and activates mTORC1 signalling in lens epithelial cells; the 5′‑UTR c.-16G>A reduces promoter activity (~80%). The missense variant is present in one of the multiplex families and in an independent individual -- appears that the two families are not related and these are independent events. Nevertheless, two variants only and no direct functional work to link to cataract pathogenesis, hence Amber rating. Sources: Literature
10 Feb 2026	Cataract v0.581	RECQL4	Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Cataract. Sources: Literature Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 40485636; 37228773; 36164748; 33294214 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM# 268400 Review for gene: RECQL4 was set to GREEN Added comment: Cataract is a feature of RTS. Sources: Literature
10 Feb 2026	Cataract v0.579	PRX	Zornitza Stark gene: PRX was added gene: PRX was added to Cataract. Sources: Literature Mode of inheritance for gene: PRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRX were set to 41230902; 36161833; 27081207 Phenotypes for gene: PRX were set to Cataract, MONDO:0005129, PRX-related Review for gene: PRX was set to GREEN Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism. Sources: Literature
10 Feb 2026	Cataract v0.577	POMGNT1	Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 38137617; 28765568 Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Review for gene: POMGNT1 was set to GREEN Added comment: Cataracts are a feature of the more severe end of the spectrum of disease associated with this gene. Sources: Literature
10 Feb 2026	Cataract v0.575	PARK7	Zornitza Stark gene: PARK7 was added gene: PARK7 was added to Cataract. Sources: Literature Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARK7 were set to 40127637; 31028127; 27460976 Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset, MIM# 606324 Review for gene: PARK7 was set to GREEN Added comment: PMID 27460976, 31028127 and 40127637 report a total of 3 individuals from 3 unrelated families with autosomal recessive PARK7 loss‑of‑function variants presenting with early‑onset Parkinson disease and bilateral cataracts (often accompanied by hearing loss and distal spinal amyotrophy). Functional studies in patient fibroblasts demonstrate reduced DJ‑1 protein and mitochondrial dysfunction. Sources: Literature
10 Feb 2026	Cataract v0.573	NOD2	Zornitza Stark gene: NOD2 was added gene: NOD2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOD2 were set to 38180755 Phenotypes for gene: NOD2 were set to Blau syndrome, MIM# 186580 Review for gene: NOD2 was set to GREEN Added comment: PMID 38180755 reports 13 individuals from 3 unrelated families (plus 8 sporadic cases) with Blau syndrome caused by heterozygous gain‑of‑function NOD2 variants; 8 patients required cataract surgery. Sources: Literature
10 Feb 2026	Cataract v0.571	MVK	Zornitza Stark gene: MVK was added gene: MVK was added to Cataract. Sources: Literature Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 33917151 Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM# 610377 Review for gene: MVK was set to GREEN Added comment: PMID 33917151 reports on a large cohort of individuals with MVK-related disease in an attempt to establish genotype-phenotype correlations. This includes 15 individuals with homozygous missense MVK variants (p.Leu264Phe, p.Ala334Thr) presenting with cataract. All seven patients homozygous for p.Leu264Phe had cataract and 13 of 15 cataract patients carried either p.Leu264Phe or p.Ala334Thr. Sources: Literature
09 Feb 2026	Cataract v0.569	MBTPS1	Zornitza Stark gene: MBTPS1 was added gene: MBTPS1 was added to Cataract. Sources: Literature Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 38337829; 38135440; 36714646; 35362222; 32420688 Phenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM# 621252; Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM# 618392 Review for gene: MBTPS1 was set to GREEN Added comment: PMID 32420688, 35362222, 36714646, 38135440 and 38337829 collectively report six unrelated families with biallelic loss‑of‑function MBTPS1 variants causing (i) a spondyloepimetaphyseal/spondyloepiphyseal dysplasia with congenital cataract, (ii) CAOP syndrome (cataract, alopecia, oral mucosal disorder, psoriasis‑like skin disease). Sources: Literature
08 Feb 2026	Cataract v0.567	KIAA1109	Zornitza Stark gene: KIAA1109 was added gene: KIAA1109 was added to Cataract. Sources: Literature Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 29290337 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM# 617822 Review for gene: KIAA1109 was set to GREEN Added comment: PMID 29290337 reports 19 individuals from 10 unrelated families with autosomal‑recessive biallelic loss‑of‑function or hypomorphic missense variants in KIAA1109. Core features include severe brain malformations, arthrogryposis, microphthalmia and bilateral congenital cataract, plus cardiac, renal and limb anomalies. Functional studies in mouse, Drosophila and zebrafish demonstrate loss‑of‑function phenotypes that recapitulate the human disorder, supporting a loss‑of‑function (biallelic) disease mechanism. Sources: Literature
08 Feb 2026	Cataract v0.565	IARS2	Zornitza Stark gene: IARS2 was added gene: IARS2 was added to Cataract. Sources: Literature Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007 Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Review for gene: IARS2 was set to GREEN Added comment: Cataracts are a core feature of the condition. Sources: Literature
08 Feb 2026	Cataract v0.563	GNAS	Zornitza Stark gene: GNAS was added gene: GNAS was added to Cataract. Sources: Literature Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 29136292; 26387561 Phenotypes for gene: GNAS were set to Disorder of GNAS inactivation MONDO:0800466 Review for gene: GNAS was set to GREEN Added comment: PMID 29136292 reports 10 unrelated families with heterozygous loss‑of‑function GNAS variants and cataract in 56% of pseudohypoparathyroidism patients; PMID 26387561 reports 4 unrelated families with GNAS mutations, 2 of which have cataract. Combined, at least 14 unrelated families (20 patients) show cataract associated with pseudohypoparathyroidism. Sources: Literature
08 Feb 2026	Cataract v0.561	GBA2	Zornitza Stark gene: GBA2 was added gene: GBA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 38334933; 28052128 Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM# 614409 Review for gene: GBA2 was set to GREEN Added comment: Multiple individuals reported with cataract. Sources: Literature
08 Feb 2026	Cataract v0.559	ERCC5	Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to Cataract. Sources: Literature Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 33766032; 32557569 Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 Review for gene: ERCC5 was set to GREEN Added comment: Cataracts are a reported feature. Sources: Literature
08 Feb 2026	Cataract v0.557	EBP	Zornitza Stark gene: EBP was added gene: EBP was added to Cataract. Sources: Literature Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 33147667; 29851033; 25846959; 25814754 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960; MEND syndrome, MIM# 300960 Review for gene: EBP was set to GREEN Added comment: Cataracts are a feature of both conditions associated with this gene. Sources: Literature
08 Feb 2026	Cataract v0.556	DMPK_DM1_CTG	Zornitza Stark STR: DMPK_DM1_CTG was added STR: DMPK_DM1_CTG was added to Cataract. Sources: Expert Review Green,Expert list Mode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DMPK_DM1_CTG were set to 20301344; 29325606 Phenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900
07 Feb 2026	Cataract v0.554	CPAMD8	Zornitza Stark gene: CPAMD8 was added gene: CPAMD8 was added to Cataract. Sources: Literature Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 39747279; 32085876; 27839872 Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319 Review for gene: CPAMD8 was set to GREEN Added comment: Multiple reports of cataract as part of the ocular phenotype associated with this condition. Sources: Literature
07 Feb 2026	Cataract v0.552	COL4A5	Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COL4A5 were set to 37162688; 33015404; 32883240 Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050 Review for gene: COL4A5 was set to GREEN Added comment: PMIDs 32883240, 33015404 and 37162688 report three unrelated families with X‑linked Alport syndrome presenting with cataract (often with anterior lenticonus and other ocular anomalies). Cataract is part of the ocular abnormalities observed in Alport syndrome. Sources: Literature
07 Feb 2026	Cataract v0.550	CNBP_DM2_CCTG	Zornitza Stark STR: CNBP_DM2_CCTG was added STR: CNBP_DM2_CCTG was added to Cataract. Sources: Expert Review Green,Expert list adult-onset tags were added to STR: CNBP_DM2_CCTG. Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088 Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668
07 Feb 2026	Cataract v0.548	CLPB	Zornitza Stark gene: CLPB was added gene: CLPB was added to Cataract. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 37548286; 36074910; 28687938; 25597510 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271 Review for gene: CLPB was set to GREEN Added comment: PMIDs 25595726, 25597510, 25597511, 28687938, 36074910 and 37548286 collectively report 35 individuals from 21 unrelated families with biallelic loss‑of‑function CLPB variants presenting with congenital cataracts, neutropenia, 3‑methylglutaconic aciduria and multisystem neurodevelopmental impairment. Sources: Literature
07 Feb 2026	Cataract v0.546	CHD7	Zornitza Stark gene: CHD7 was added gene: CHD7 was added to Cataract. Sources: Literature Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD7 were set to 38597178; 32436650 Phenotypes for gene: CHD7 were set to CHARGE syndrome, MIM# 214800 Review for gene: CHD7 was set to AMBER Added comment: PMID 38597178 reports six unrelated individuals (six families) with heterozygous loss‑of‑function CHD7 variants presenting with CHARGE syndrome and cataract, with detailed ophthalmic phenotyping; PMID 32436650 reports one additional individual (one family) with CHARGE syndrome and cataract caused by a heterozygous missense CHD7 variant. Overall, cataract is present in a small proportion of affected individuals. Sources: Literature
07 Feb 2026	Cataract v0.544	CENPF	Zornitza Stark gene: CENPF was added gene: CENPF was added to Cataract. Sources: Literature Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, MIM# 243605 Review for gene: CENPF was set to AMBER Added comment: PMID 26820108 reports 4 individuals from 2 families with biallelic truncating CENPF variants presenting with Strømme syndrome, which includes congenital cataract, microphthalmia, intestinal atresia, and microcephaly. Cataracts not consistently reported in other affected individuals. Sources: Literature
07 Feb 2026	Cataract v0.542	CAPN15	Zornitza Stark gene: CAPN15 was added gene: CAPN15 was added to Cataract. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Review for gene: CAPN15 was set to GREEN Added comment: PMID 32885237 reports five individuals from four unrelated families with biallelic missense CAPN15 variants presenting with congenital ocular anomalies (microphthalmia, coloboma, cataract), growth delay, developmental delay, autism and sensorineural hearing loss. Segregation confirms autosomal recessive inheritance. Capn15 knockout mice recapitulate eye anomalies and reduced growth, supporting pathogenicity. Sources: Literature
07 Feb 2026	Cataract v0.540	ATAD3A	Zornitza Stark gene: ATAD3A was added gene: ATAD3A was added to Cataract. Sources: Literature Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 33845882; 32607449 Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MIM# 618810 Review for gene: ATAD3A was set to GREEN Added comment: PMID 33845882 reports 13 individuals from 8 unrelated families with recessive ATAD3A loss‑of‑function variants causing a neuro‑mitochondrial syndrome that includes congenital cataract; PMID 32607449 adds a consanguineous family with a homozygous splice‑site loss‑of‑function variant and early bilateral cataracts. Sources: Literature
07 Feb 2026	Cataract v0.538	ALG8	Zornitza Stark gene: ALG8 was added gene: ALG8 was added to Cataract. Sources: Literature Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 39792033; 26066342 Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM# 608104 Review for gene: ALG8 was set to GREEN Added comment: Cataract is a reported feature of this CDG. Sources: Literature
06 Jan 2026	Cataract v0.533	SEC24C	Zornitza Stark gene: SEC24C was added gene: SEC24C was added to Cataract. Sources: Expert Review Red,Literature Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24C were set to 40131364 Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
30 Dec 2025	Cataract v0.532	SPAG9	Zornitza Stark gene: SPAG9 was added gene: SPAG9 was added to Cataract. Sources: Expert Review Red,Literature Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG9 were set to 39846792 Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
30 Dec 2025	Cataract v0.531	EXD3	Zornitza Stark gene: EXD3 was added gene: EXD3 was added to Cataract. Sources: Expert Review Red,Literature Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXD3 were set to 37396523 Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related
29 Dec 2025	Cataract v0.529	STXBP2	Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Dec 2025	Cataract v0.528	RET	Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Dec 2025	Cataract v0.526	NCF1	Zornitza Stark Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Dec 2025	Cataract v0.524	LRBA	Zornitza Stark Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Dec 2025	Cataract v0.523	LIG4	Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Dec 2025	Cataract v0.521	VPS4A	Zornitza Stark gene: VPS4A was added gene: VPS4A was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to PMID: 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273 Mode of pathogenicity for gene: VPS4A was set to Other
29 Dec 2025	Cataract v0.520	LETM1	Zornitza Stark gene: LETM1 was added gene: LETM1 was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
29 Dec 2025	Cataract v0.518	CDK9	Zornitza Stark gene: CDK9 was added gene: CDK9 was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546 Phenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy
24 Dec 2025	Cataract v0.515	WRN	Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.511	VSX2	Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.507	VIM	Zornitza Stark Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.504	TFAP2A	Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.501	SLC2A1	Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.499	PITX3	Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.497	PEX7	Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.495	PEX6	Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.493	PEX5	Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.491	PEX3	Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.489	PEX26	Zornitza Stark Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.487	PEX2	Zornitza Stark Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.485	PEX19	Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.483	PEX16	Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.481	PEX14	Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.479	PEX13	Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.477	PEX12	Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.474	PEX11B	Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.472	PEX10	Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.470	PEX1	Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.467	PAX6	Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.463	OPA3	Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.461	OCRL	Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
24 Dec 2025	Cataract v0.458	MYH9	Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.455	MIP	Zornitza Stark Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Dec 2025	Cataract v0.451	MAN2B1	Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Dec 2025	Cataract v0.447	CYP27A1	Zornitza Stark Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.443	MAF	Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.440	INPP5K	Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.439	INPP5K	Zornitza Stark Tag founder tag was added to gene: INPP5K.
23 Dec 2025	Cataract v0.436	HMX1	Zornitza Stark Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.433	GNPAT	Zornitza Stark Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.431	GALT	Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.428	GJA3	Zornitza Stark Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.425	GALK1	Zornitza Stark Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.423	FTL	Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.421	FOXE3	Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.419	FAM126A	Zornitza Stark Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.416	CRYAB	Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.414	ERCC8	Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.412	ERCC6	Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.410	ERCC3	Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.408	ERCC2	Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.406	COL4A1	Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.404	COL2A1	Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Dec 2025	Cataract v0.402	COL18A1	Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.401	COL18A1	Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Dec 2025	Cataract v0.399	COL11A1	Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Dec 2025	Cataract v0.398	MT-TH	Zornitza Stark gene: MT-TH was added gene: MT-TH was added to Cataract. Sources: Expert Review Green,Expert list mtDNA tags were added to gene: MT-TH. Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194 Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
18 Dec 2025	Cataract v0.397	MT-TG	Zornitza Stark gene: MT-TG was added gene: MT-TG was added to Cataract. Sources: Expert Review Green,Expert list mtDNA tags were added to gene: MT-TG. Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480 Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
25 Nov 2025	Cataract v0.394	B3GLCT	Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Nov 2025	Cataract v0.391	DHCR7	Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Nov 2025	Cataract v0.385	AGPS	Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Nov 2025	Cataract v0.382	ADAMTS10	Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Nov 2025	Cataract v0.380	ALDH18A1	Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Nov 2025	Cataract v0.377	SRD5A3	Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2025	Cataract v0.374	ISPD	Zornitza Stark Tag new gene name tag was added to gene: ISPD.
14 Mar 2025	Cataract v0.373	MIR184	Zornitza Stark Tag non-coding gene tag was added to gene: MIR184.
07 Nov 2024	Cataract v0.373	KAT2B	Ain Roesley gene: KAT2B was added gene: KAT2B was added to Cataract. Sources: Literature Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KAT2B were set to 39366742 Phenotypes for gene: KAT2B were set to cataract MONDO:0005129, KAT2B-related Review for gene: KAT2B was set to RED gene: KAT2B was marked as current diagnostic Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant both have steroid-resistant nephrotic syndrome and bilateral cataract only 1 has FSGS Sources: Literature
28 Oct 2024	Cataract v0.370	SLC33A1	Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
05 Sep 2024	Cataract v0.369	GBF1	Ain Roesley gene: GBF1 was added gene: GBF1 was added to Cataract. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GBF1 were set to 39110251 Phenotypes for gene: GBF1 were set to autosomal dominant cataract MONDO:0022672, GBF1-related Penetrance for gene: GBF1 were set to Complete Review for gene: GBF1 was set to RED gene: GBF1 was marked as current diagnostic Added comment: 1 missense in a multi-generational family. however, this variant has 98 hets on gnomad v4 and low conservation (changes in 2 mammals and reptiles). Using the human lens epithelium (HLE) cell line, we found that the p.T1287I mutation reduced GBF1 protein levels. Knockdown of endogenous GBF1 activated the unfolded protein response and enhanced autophagy, as well as increasing XBP1s protein levels and decreasing p-JNK1 protein levels. Heterozygous Gbf1 knockout (Gbf1+/-) mice also exhibited cataract malformation, while their littermate wild-type (Gbf1+/+) mice did not. Sources: Literature
08 Aug 2024	Cataract v0.367	GLS	Zornitza Stark Mode of pathogenicity for gene: GLS was changed from None to Other
08 Aug 2024	Cataract v0.367	GLS	Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Mar 2024	Cataract v0.362	RGS6	Seb Lunke gene: RGS6 was added gene: RGS6 was added to Cataract. Sources: Literature Mode of inheritance for gene: RGS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS6 were set to 38332109; 25525169 Phenotypes for gene: RGS6 were set to Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 Review for gene: RGS6 was set to RED Added comment: Original paper from 2015 describes single consanguineous with two siblings affected by cataract, developmental delay, and microcephaly >3SD. A homozygous canonical splice variant predicted to lead to NMD in RGS6 was identified by WGS and linkage (rather than full WGS analysis). The 2024 paper speculates that the phenotype is driven by a change in RGS6 isoform balance rather than LoF using a knock-out mouse model. It is noted that the mice did not have microcephaly, and ID was assessed using social interaction. No mention of cataract in the mice. Sources: Literature
21 Oct 2023	Cataract v0.358	EPHA2	Zornitza Stark Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Sep 2023	Cataract v0.355	COL4A2	Ee Ming Wong gene: COL4A2 was added gene: COL4A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to PMID: 26708157; 24203695 Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related Review for gene: COL4A2 was set to AMBER gene: COL4A2 was marked as current diagnostic Added comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation. - PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract. Sources: Literature
01 Jun 2023	Cataract v0.354	TAPT1	Paul De Fazio gene: TAPT1 was added gene: TAPT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 36697720; 36652330 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Review for gene: TAPT1 was set to RED gene: TAPT1 was marked as current diagnostic Added comment: PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement. Sources: Literature
04 May 2023	Cataract v0.353	DNA2	Seb Lunke gene: DNA2 was added gene: DNA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. Sources: Literature
04 May 2023	Cataract v0.353	DNA2	Seb Lunke gene: DNA2 was added gene: DNA2 was added to Cataract. Sources: Literature deep intronic, founder tags were added to gene: DNA2. Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. Sources: Literature
06 Apr 2023	Cataract v0.350	RNH1	Krithika Murali gene: RNH1 was added gene: RNH1 was added to Cataract. Sources: Literature Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNH1 were set to PMID: 36935417 Phenotypes for gene: RNH1 were set to RNH1-related disease Review for gene: RNH1 was set to AMBER Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. Sources: Literature
20 Feb 2023	Cataract v0.349	TRPM3	Zornitza Stark gene: TRPM3 was added gene: TRPM3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to 25090642; 33484482 Phenotypes for gene: TRPM3 were set to Cataract 50 with or without glaucoma, MIM#620253 Review for gene: TRPM3 was set to AMBER Added comment: Single multi-generational family reported with a missense variant in this gene and cataract. Mouse model of same variant. Sources: Expert list
01 Dec 2022	Cataract v0.347	LEMD2	Seb Lunke gene: LEMD2 was added gene: LEMD2 was added to Cataract. Sources: Literature founder tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660 Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500 Review for gene: LEMD2 was set to AMBER Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely. Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398) Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660). It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. Sources: Literature
06 Oct 2022	Cataract v0.345	FOSL2	Krithika Murali gene: FOSL2 was added gene: FOSL2 was added to Cataract. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to 36197437 Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related Review for gene: FOSL2 was set to GREEN Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. Clinical features included: - Cutis aplasia congenital of the scalp (10/11) - Tooth enamel hypoplasia and discolouration (8/9) - Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis - 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset) - 6/9 IUGR - 5/9 postnatal growth restriction - 7/9 developmental delay/ID - 5/7 ADHD/ASD - 2/9 seizures Sources: Literature
05 Oct 2022	Cataract v0.345	GALK1	Zornitza Stark Tag treatable tag was added to gene: GALK1.
05 Oct 2022	Cataract v0.345	GALT	Zornitza Stark Tag treatable tag was added to gene: GALT.
29 May 2022	Cataract v0.342	GCNT2	Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 May 2022	Cataract v0.337	MIR184	Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 May 2022	Cataract v0.334	CRYGS	Zornitza Stark Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2022	Cataract v0.331	LIM2	Zornitza Stark Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 May 2022	Cataract v0.328	BFSP1	Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Apr 2022	Cataract v0.325	CHMP4B	Zornitza Stark Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Cataract v0.322	P3H2	Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Cataract v0.320	AGK	Elena Savva Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Cataract v0.320	AGK	Elena Savva Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Nov 2021	Cataract v0.317	CRYGD	Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Nov 2021	Cataract v0.314	CRYGC	Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Nov 2021	Cataract v0.311	CRYBB3	Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Nov 2021	Cataract v0.308	CRYBB2	Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Nov 2021	Cataract v0.305	CRYBB1	Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Nov 2021	Cataract v0.302	CRYBA4	Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Nov 2021	Cataract v0.299	CRYBA1	Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Nov 2021	Cataract v0.296	CRYAA	Zornitza Stark Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
09 Nov 2021	Cataract v0.293	BFSP2	Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Oct 2021	Cataract v0.290	ADAMTS17	Zornitza Stark gene: ADAMTS17 was added gene: ADAMTS17 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Review for gene: ADAMTS17 was set to GREEN Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported. Sources: Expert Review
06 Sep 2021	Cataract v0.286	UBE2U	Ee Ming Wong gene: UBE2U was added gene: UBE2U was added to Cataract. Sources: Literature Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBE2U were set to PMID: 33776059 Phenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay Penetrance for gene: UBE2U were set to Complete Review for gene: UBE2U was set to RED gene: UBE2U was marked as current diagnostic Added comment: - one missense UBE2U variant identified in one family with five affected individuals (includes proband) - in silico analyses predicts the UBE2U variant to be damaging - no functional - another STUM missense variant identified in the same family predicted to be benign - additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome Sources: Literature
17 Aug 2021	Cataract v0.285	PGRMC1	Bryony Thompson gene: PGRMC1 was added gene: PGRMC1 was added to Cataract. Sources: Literature SV/CNV tags were added to gene: PGRMC1. Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGRMC1 were set to 33867527; 23783460 Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract Review for gene: PGRMC1 was set to AMBER Added comment: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. Sources: Literature
08 Jul 2021	Cataract v0.280	FYCO1	Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
08 Jul 2021	Cataract v0.280	FYCO1	Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Apr 2021	Cataract v0.275	MED27	Zornitza Stark gene: MED27 was added gene: MED27 was added to Cataract. Sources: Literature Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Review for gene: MED27 was set to GREEN Added comment: 16 individuals from 11 families reported. Sources: Literature
14 Apr 2021	Cataract v0.272	FAR1	Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Apr 2021	Cataract v0.270	FAR1	Chirag Patel gene: FAR1 was added gene: FAR1 was added to Cataract. Sources: Literature Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAR1 were set to PMID: 33239752 Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts Review for gene: FAR1 was set to GREEN Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Sources: Literature
15 Mar 2021	Cataract v0.266	COPB1	Zornitza Stark gene: COPB1 was added gene: COPB1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts Review for gene: COPB1 was set to AMBER Added comment: Two unrelated families, some supportive functional data. Sources: Literature
06 Feb 2021	Cataract v0.263	SC5D	Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Feb 2021	Cataract v0.260	NSUN2	Tiong Tan gene: NSUN2 was added gene: NSUN2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features Penetrance for gene: NSUN2 were set to Complete Review for gene: NSUN2 was set to AMBER Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs13; c.1583del, p.Pro528Hisfs19 and juvenile cataracts Sources: Literature
20 Jan 2021	Cataract v0.259	CTDP1	Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
16 Jan 2021	Cataract v0.258	ZNF526	Zornitza Stark gene: ZNF526 was added gene: ZNF526 was added to Cataract. Sources: Literature Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746 Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia Review for gene: ZNF526 was set to GREEN Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene. - PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided. - PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum Sources: Literature
29 Dec 2020	Cataract v0.255	GJA8	Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Dec 2020	Cataract v0.252	RAB3GAP2	Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Dec 2020	Cataract v0.249	RAB3GAP1	Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Dec 2020	Cataract v0.246	PXDN	Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Dec 2020	Cataract v0.244	DPAGT1	Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111 Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964 Review for gene: DPAGT1 was set to GREEN Added comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported. Sources: Expert Review
20 Nov 2020	Cataract v0.243	ANAPC1	Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
10 Nov 2020	Cataract v0.241	JAM3	Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
05 Nov 2020	Cataract v0.240	ARL2	Zornitza Stark gene: ARL2 was added gene: ARL2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARL2 were set to 30945270 Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 Review for gene: ARL2 was set to RED Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters). Sources: Expert list
18 Oct 2020	Cataract v0.237	SREBF1	Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 31790666; 32902915 Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses. Sources: Expert Review
14 Oct 2020	Cataract v0.235	EPG5	Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26917586 Phenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840 Review for gene: EPG5 was set to GREEN Added comment: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported. Sources: Expert Review
06 Oct 2020	Cataract v0.233	COL9A2	Natalie Tan gene: COL9A2 was added gene: COL9A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493 Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 Review for gene: COL9A2 was set to GREEN Added comment: Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.] Sources: Literature
06 Oct 2020	Cataract v0.232	COL9A1	Natalie Tan gene: COL9A1 was added gene: COL9A1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to PMID: 21421862; 16909383 Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 Review for gene: COL9A1 was set to GREEN Added comment: At least three families reported. Sources: Literature
03 Sep 2020	Cataract v0.230	RAB18	Zornitza Stark Tag founder tag was added to gene: RAB18.
03 Sep 2020	Cataract v0.228	RAB18	Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Aug 2020	Cataract v0.226	PSMC3	Zornitza Stark gene: PSMC3 was added gene: PSMC3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMC3 were set to 32500975 Phenotypes for gene: PSMC3 were set to Deafness; cataract Review for gene: PSMC3 was set to AMBER Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. Sources: Literature
06 Aug 2020	Cataract v0.223	BCOR	Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Jul 2020	Cataract v0.220	ITPA	Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
08 Jul 2020	Cataract v0.215	LMX1B	Zornitza Stark Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Jul 2020	Cataract v0.213	PIK3R1	Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Jul 2020	Cataract v0.210	GJA1	Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
08 Jul 2020	Cataract v0.207	LCAT	Dean Phelan gene: LCAT was added gene: LCAT was added to Cataract. Sources: Literature Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: LCAT was set to RED Added comment: OMIM: Norum disease (AR) - Corneal lipid deposits, Corneal opacities Fish-eye disease (AR) - Corneal opacities Discussion with ZS - Corneal opacities not the same as cataracts and often misdiagnosed. Therefore leave as Red at this stage. Sources: Literature
08 Jul 2020	Cataract v0.206	ISPD	Seb Lunke gene: ISPD was added gene: ISPD was added to Cataract. Sources: Literature Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522421; 22522420 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643 Added comment: >10 independent patients with congential cataract as part of muscular dystrophy presentation, plus functional studies in zebra fish. Sources: Literature
08 Jul 2020	Cataract v0.201	LONP1	Naomi Baker changed review comment from: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature; to: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517). Sources: Literature
08 Jul 2020	Cataract v0.201	GTF2H5	Ain Roesley gene: GTF2H5 was added gene: GTF2H5 was added to Cataract. Sources: Literature Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 15220921,24986372 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive (MIM# 616395) Penetrance for gene: GTF2H5 were set to unknown Review for gene: GTF2H5 was set to GREEN Added comment: PMID: 24986372; A 5‐year‐old male, born as a collodion baby from healthy non‐consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. Homozygous for a nonsense variant. PMID: 15220921; 2 out of 4 patients have cataracts. The 2 patients without cataracts are siblings. (2x homs for PTVs, 1x chet for PTV and missense) Sources: Literature
08 Jul 2020	Cataract v0.201	LONP1	Naomi Baker gene: LONP1 was added gene: LONP1 was added to Cataract. Sources: Literature Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; 29408517. Phenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373 Penetrance for gene: LONP1 were set to Complete Review for gene: LONP1 was set to GREEN Added comment: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature
08 Jul 2020	Cataract v0.201	GFER	Paul De Fazio gene: GFER was added gene: GFER was added to Cataract. Sources: Literature Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; 25269795 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076 Review for gene: GFER was set to AMBER gene: GFER was marked as current diagnostic Added comment: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522). Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects. Sources: Literature
08 Jul 2020	Cataract v0.200	GLS	Zornitza Stark gene: GLS was added gene: GLS was added to Cataract. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30239721 Phenotypes for gene: GLS were set to Infantile cataracts Review for gene: GLS was set to AMBER Added comment: Single family and a zebrafish model. Sources: Expert list
08 Jul 2020	Cataract v0.197	GEMIN4	Seb Lunke gene: GEMIN4 was added gene: GEMIN4 was added to Cataract. Sources: Literature Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 25558065; 27878435 Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 Review for gene: GEMIN4 was set to GREEN Added comment: From GEL: PMID: 25558065 reported on 5 affected patients from 3 unrelated consanguineous Saudi families with neurodevelopmental disorder, microcephaly cataracts and renal abnormalities. PMID: 27878435 reported on a different family with a different variant that was previously reported. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Sources: Literature
08 Jul 2020	Cataract v0.194	NHS	Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
08 Jul 2020	Cataract v0.192	NF2	Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Jul 2020	Cataract v0.190	NDP	Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
08 Jul 2020	Cataract v0.187	FKTN	Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
08 Jul 2020	Cataract v0.184	FBN1	Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Jul 2020	Cataract v0.181	NACC1	Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Jul 2020	Cataract v0.180	ESCO2	Seb Lunke gene: ESCO2 was added gene: ESCO2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259 Phenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300 Review for gene: ESCO2 was set to AMBER Added comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2. Sources: Literature
08 Jul 2020	Cataract v0.177	EIF2B2	Seb Lunke gene: EIF2B2 was added gene: EIF2B2 was added to Cataract. Sources: Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 21484434; 14566705; 28041799 Phenotypes for gene: EIF2B2 were set to leukodystrophy; congenital cataracts gene: EIF2B2 was marked as current diagnostic Added comment: From GEL: There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. Sources: Literature
07 Jul 2020	Cataract v0.174	CTDP1	Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Jul 2020	Cataract v0.172	CTDP1	Zornitza Stark Tag founder tag was added to gene: CTDP1.
07 Jul 2020	Cataract v0.172	DYRK1A	Seb Lunke gene: DYRK1A was added gene: DYRK1A was added to Cataract. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 28053047; 25944381 Phenotypes for gene: DYRK1A were set to congenital cataracts Review for gene: DYRK1A was set to RED Added comment: Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence. Sources: Literature
07 Jul 2020	Cataract v0.170	DNMBP	Seb Lunke gene: DNMBP was added gene: DNMBP was added to Cataract. Sources: Literature Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMBP were set to 30290152 Phenotypes for gene: DNMBP were set to congenital cataract Review for gene: DNMBP was set to GREEN gene: DNMBP was marked as current diagnostic Added comment: Multiple individuals from three independent large consanguineous families with bilateral infantile cataracts. Seperate hom nonsense variants. Sources: Literature
07 Jul 2020	Cataract v0.169	CRYGA	Seb Lunke Tag refuted was removed from gene: CRYGA. Tag disputed tag was added to gene: CRYGA.
07 Jul 2020	Cataract v0.169	CRYGA	Zornitza Stark Tag refuted tag was added to gene: CRYGA.
07 Jul 2020	Cataract v0.168	CRYGA	Seb Lunke gene: CRYGA was added gene: CRYGA was added to Cataract. Sources: Literature Mode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGA were set to 30450742; 28839118 Review for gene: CRYGA was set to RED Added comment: Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant) Sources: Literature
07 Jul 2020	Cataract v0.167	AKR1E2	Seb Lunke gene: AKR1E2 was added gene: AKR1E2 was added to Cataract. Sources: Literature Mode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1E2 were set to 26622071; 26622071 Phenotypes for gene: AKR1E2 were set to congenital cararact Review for gene: AKR1E2 was set to RED Added comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since. Sources: Literature
07 Jul 2020	Cataract v0.166	ADAMTSL4	Seb Lunke gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Cataract. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22338190; 20702823 Phenotypes for gene: ADAMTSL4 were set to ectopia lentis; cataract Review for gene: ADAMTSL4 was set to RED Added comment: Early onset cataract described in multiple patients with variants in ADAMTSL4 as a secondary manifestation to Ectopia lentis et pupillae (MIM 225200) Sources: Literature
07 Jul 2020	Cataract v0.164	ABHD12	Seb Lunke gene: ABHD12 was added gene: ABHD12 was added to Cataract. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911 Phenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts Added comment: Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature. Sources: Literature
07 Jul 2020	Cataract v0.160	POLG	Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Jul 2020	Cataract v0.158	RIC1	Zornitza Stark gene: RIC1 was added gene: RIC1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 27878435; 31932796 Phenotypes for gene: RIC1 were set to CATIFA syndrome, MIM# 618761 Review for gene: RIC1 was set to AMBER Added comment: 8 individuals from two consanguineous families, homozygous for same missense variant (founder effect). Cataract is a key feature of the phenotype. Sources: Expert list
07 Jul 2020	Cataract v0.155	SLC16A12	Zornitza Stark Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Jul 2020	Cataract v0.153	WFS1	Zornitza Stark gene: WFS1 was added gene: WFS1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 32350710 Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, MIM# 222300 Review for gene: WFS1 was set to GREEN Added comment: Cataracts reported in ~40% in a cohort of affected individuals. Sources: Expert list
07 Jul 2020	Cataract v0.151	XYLT2	Zornitza Stark gene: XYLT2 was added gene: XYLT2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, MIM# 605822 Review for gene: XYLT2 was set to GREEN Added comment: Cataracts are a key feature of this condition. Sources: Expert list
06 Jul 2020	Cataract v0.149	ADD3	Elena Savva gene: ADD3 was added gene: ADD3 was added to Cataract. Sources: Literature Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to PMID: 29768408; 23836506 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 617008 Review for gene: ADD3 was set to AMBER Added comment: PMID: 29768408;23836506 - 4/5 patients (2 families) with early-onset bilateral cataracts Two families, emerging gene Sources: Literature
24 Jun 2020	Cataract v0.147	SIL1	Zornitza Stark Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Jun 2020	Cataract v0.144	HSF4	Zornitza Stark Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Jun 2020	Cataract v0.139	COG4	Chirag Patel gene: COG4 was added gene: COG4 was added to Cataract. Sources: Literature Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 Phenotypes for gene: COG4 were set to PMID: 31949312; 30290151 Review for gene: COG4 was set to GREEN Added comment: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg) Congenital disorder of glycosylation, type IIj (AR) Sources: Literature
25 Apr 2020	Cataract v0.137	GALM	Zornitza Stark gene: GALM was added gene: GALM was added to Cataract. Sources: Literature Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia Review for gene: GALM was set to GREEN Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422) Note only two of the reported individuals had cataracts. Sources: Literature
24 Apr 2020	Cataract v0.134	TDRD7	Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2020	Cataract v0.132	LSS	Bryony Thompson gene: LSS was added gene: LSS was added to Cataract. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 26200341; 29016354 Phenotypes for gene: LSS were set to Cataract 44 MIM#616509 Review for gene: LSS was set to GREEN Added comment: Three families reported with congenital cataracts with biallelic variants in LSS. Sources: Literature
15 Apr 2020	Cataract v0.126	SIPA1L3	Bryony Thompson gene: SIPA1L3 was added gene: SIPA1L3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400 Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851 Review for gene: SIPA1L3 was set to AMBER Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217). Sources: Expert list
15 Apr 2020	Cataract v0.122	POMT2	Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
15 Apr 2020	Cataract v0.118	OAT	Bryony Thompson gene: OAT was added gene: OAT was added to Cataract. Sources: Expert list Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 22674428; 11297489 Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Review for gene: OAT was set to GREEN Added comment: Onset of cataract in the second/third decade is a common feature of this condition. Sources: Expert list
15 Apr 2020	Cataract v0.113	MSMO1	Bryony Thompson gene: MSMO1 was added gene: MSMO1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Review for gene: MSMO1 was set to GREEN Added comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition. Sources: Expert list
07 Apr 2020	Cataract v0.106	TMEM70	Bryony Thompson gene: TMEM70 was added gene: TMEM70 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254 Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Review for gene: TMEM70 was set to AMBER Added comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition. Sources: Expert list
07 Apr 2020	Cataract v0.104	WAS	Bryony Thompson Marked gene: WAS as ready
07 Apr 2020	Cataract v0.104	WAS	Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
07 Apr 2020	Cataract v0.104	WAS	Bryony Thompson Classified gene: WAS as Red List (low evidence)
07 Apr 2020	Cataract v0.104	WAS	Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
07 Apr 2020	Cataract v0.103	WAS	Bryony Thompson reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Apr 2020	Cataract v0.99	BTK	Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Apr 2020	Cataract v0.95	HPS1	Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.91	HPS4	Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.87	HPS6	Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.83	ICOS	Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.79	IKBKG	Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
06 Apr 2020	Cataract v0.75	IL10RA	Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.72	IL10RB	Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.69	IL2RG	Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Apr 2020	Cataract v0.66	ITGB2	Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.62	LARGE1	Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2020	Cataract v0.60	HTRA2	Lauren Akesson gene: HTRA2 was added gene: HTRA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to PMID: 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248) Penetrance for gene: HTRA2 were set to unknown Review for gene: HTRA2 was set to GREEN Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117). Sources: Literature
23 Mar 2020	Cataract v0.59	FOXP3	Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Mar 2020	Cataract v0.54	CYBA	Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2020	Cataract v0.51	CYBB	Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
23 Mar 2020	Cataract v0.48	DCLRE1C	Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2020	Cataract v0.44	DOCK8	Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2020	Cataract v0.43	DOCK8	Zornitza Stark Tag SV/CNV tag was added to gene: DOCK8.
23 Mar 2020	Cataract v0.39	EPCAM	Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2020	Cataract v0.35	FKRP	Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2020	Cataract v0.33	EED	Lauren Akesson gene: EED was added gene: EED was added to Cataract. Sources: Literature Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EED were set to 25787343 Phenotypes for gene: EED were set to Cohen-Gibson syndrome Penetrance for gene: EED were set to unknown Review for gene: EED was set to AMBER Added comment: Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506). Sources: Literature
20 Mar 2020	Cataract v0.32	CD40LG	Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Mar 2020	Cataract v0.24	ADAM17	Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Mar 2020	Cataract v0.21	ADA	Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Mar 2020	Cataract v0.18	PLOD3	Lauren Akesson gene: PLOD3 was added gene: PLOD3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to cataract Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families Sources: Literature
17 Feb 2020	Cataract v0.16	INTS1	Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
02 Feb 2020	Cataract v0.14	TKFC	Zornitza Stark gene: TKFC was added gene: TKFC was added to Cataract. Sources: Literature Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction Review for gene: TKFC was set to AMBER Added comment: Two unrelated individuals reported. Sources: Literature
29 Jan 2020	Cataract v0.12	ANAPC1	Alison Yeung gene: ANAPC1 was added gene: ANAPC1 was added to Cataract. Sources: Literature Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to PMID: 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625 Review for gene: ANAPC1 was set to GREEN gene: ANAPC1 was marked as current diagnostic Added comment: 7 reported unrelated families Sources: Literature
22 Jan 2020	Cataract v0.10	PIK3C2A	Zornitza Stark gene: PIK3C2A was added gene: PIK3C2A was added to Cataract. Sources: Literature Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440 Review for gene: PIK3C2A was set to GREEN gene: PIK3C2A was marked as current diagnostic Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype. Sources: Literature
31 Dec 2019	Cataract v0.6	NUP188	Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
16 Dec 2019	Cataract v0.3	PANK4	Zornitza Stark gene: PANK4 was added gene: PANK4 was added to Cataract_VCGS. Sources: Literature Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PANK4 were set to 30585370 Phenotypes for gene: PANK4 were set to Congenital posterior cataract Review for gene: PANK4 was set to AMBER Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model. Sources: Literature
13 Dec 2019	Cataract v0.1	PISD	Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019	Cataract v0.0	ZAP70	Zornitza Stark gene: ZAP70 was added gene: ZAP70 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZAP70 was set to Unknown
17 Nov 2019	Cataract v0.0	XIAP	Zornitza Stark gene: XIAP was added gene: XIAP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XIAP was set to Unknown
17 Nov 2019	Cataract v0.0	WRN	Zornitza Stark gene: WRN was added gene: WRN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WRN was set to Unknown
17 Nov 2019	Cataract v0.0	WAS	Zornitza Stark gene: WAS was added gene: WAS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WAS was set to Unknown
17 Nov 2019	Cataract v0.0	VSX2	Zornitza Stark gene: VSX2 was added gene: VSX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VSX2 was set to Unknown
17 Nov 2019	Cataract v0.0	VIM	Zornitza Stark gene: VIM was added gene: VIM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VIM was set to Unknown
17 Nov 2019	Cataract v0.0	TTC37	Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC37 was set to Unknown
17 Nov 2019	Cataract v0.0	TFAP2A	Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TFAP2A was set to Unknown
17 Nov 2019	Cataract v0.0	TDRD7	Zornitza Stark gene: TDRD7 was added gene: TDRD7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TDRD7 was set to Unknown
17 Nov 2019	Cataract v0.0	STXBP2	Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP2 was set to Unknown
17 Nov 2019	Cataract v0.0	SRD5A3	Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SRD5A3 was set to Unknown
17 Nov 2019	Cataract v0.0	SLC37A4	Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC37A4 was set to Unknown
17 Nov 2019	Cataract v0.0	SLC33A1	Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC33A1 was set to Unknown
17 Nov 2019	Cataract v0.0	SLC2A1	Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC2A1 was set to Unknown
17 Nov 2019	Cataract v0.0	SLC16A12	Zornitza Stark gene: SLC16A12 was added gene: SLC16A12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC16A12 was set to Unknown
17 Nov 2019	Cataract v0.0	SKIV2L	Zornitza Stark gene: SKIV2L was added gene: SKIV2L was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKIV2L was set to Unknown
17 Nov 2019	Cataract v0.0	SIL1	Zornitza Stark gene: SIL1 was added gene: SIL1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIL1 was set to Unknown
17 Nov 2019	Cataract v0.0	SH2D1A	Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH2D1A was set to Unknown
17 Nov 2019	Cataract v0.0	SC5D	Zornitza Stark gene: SC5D was added gene: SC5D was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SC5D was set to Unknown
17 Nov 2019	Cataract v0.0	RET	Zornitza Stark gene: RET was added gene: RET was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown
17 Nov 2019	Cataract v0.0	RAG2	Zornitza Stark gene: RAG2 was added gene: RAG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAG2 was set to Unknown
17 Nov 2019	Cataract v0.0	RAB3GAP2	Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB3GAP2 was set to Unknown
17 Nov 2019	Cataract v0.0	RAB3GAP1	Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB3GAP1 was set to Unknown
17 Nov 2019	Cataract v0.0	RAB18	Zornitza Stark gene: RAB18 was added gene: RAB18 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB18 was set to Unknown
17 Nov 2019	Cataract v0.0	PXDN	Zornitza Stark gene: PXDN was added gene: PXDN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PXDN was set to Unknown
17 Nov 2019	Cataract v0.0	POMT2	Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT2 was set to Unknown
17 Nov 2019	Cataract v0.0	POMT1	Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT1 was set to Unknown
17 Nov 2019	Cataract v0.0	POLG	Zornitza Stark gene: POLG was added gene: POLG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG was set to Unknown
17 Nov 2019	Cataract v0.0	PLCG2	Zornitza Stark gene: PLCG2 was added gene: PLCG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLCG2 was set to Unknown
17 Nov 2019	Cataract v0.0	PITX3	Zornitza Stark gene: PITX3 was added gene: PITX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PITX3 was set to Unknown
17 Nov 2019	Cataract v0.0	PISD	Zornitza Stark gene: PISD was added gene: PISD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PISD was set to Unknown
17 Nov 2019	Cataract v0.0	PIK3R1	Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R1 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX7	Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX7 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX6	Zornitza Stark gene: PEX6 was added gene: PEX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX6 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX5	Zornitza Stark gene: PEX5 was added gene: PEX5 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX5 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX3	Zornitza Stark gene: PEX3 was added gene: PEX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX3 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX26	Zornitza Stark gene: PEX26 was added gene: PEX26 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX26 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX2	Zornitza Stark gene: PEX2 was added gene: PEX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX2 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX19	Zornitza Stark gene: PEX19 was added gene: PEX19 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX19 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX16	Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX16 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX14	Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX14 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX13	Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX13 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX12	Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX12 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX11B	Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX11B was set to Unknown
17 Nov 2019	Cataract v0.0	PEX10	Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX10 was set to Unknown
17 Nov 2019	Cataract v0.0	PEX1	Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX1 was set to Unknown
17 Nov 2019	Cataract v0.0	PAX6	Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX6 was set to Unknown
17 Nov 2019	Cataract v0.0	P3H2	Zornitza Stark gene: P3H2 was added gene: P3H2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: P3H2 was set to Unknown
17 Nov 2019	Cataract v0.0	OPA3	Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPA3 was set to Unknown
17 Nov 2019	Cataract v0.0	OCRL	Zornitza Stark gene: OCRL was added gene: OCRL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OCRL was set to Unknown
17 Nov 2019	Cataract v0.0	NUP188	Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NUP188 was set to Unknown
17 Nov 2019	Cataract v0.0	NHS	Zornitza Stark gene: NHS was added gene: NHS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NHS was set to Unknown
17 Nov 2019	Cataract v0.0	NF2	Zornitza Stark gene: NF2 was added gene: NF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF2 was set to Unknown
17 Nov 2019	Cataract v0.0	NDP	Zornitza Stark gene: NDP was added gene: NDP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDP was set to Unknown
17 Nov 2019	Cataract v0.0	NCF4	Zornitza Stark gene: NCF4 was added gene: NCF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF4 was set to Unknown
17 Nov 2019	Cataract v0.0	NCF2	Zornitza Stark gene: NCF2 was added gene: NCF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF2 was set to Unknown
17 Nov 2019	Cataract v0.0	NCF1	Zornitza Stark gene: NCF1 was added gene: NCF1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF1 was set to Unknown
17 Nov 2019	Cataract v0.0	NACC1	Zornitza Stark gene: NACC1 was added gene: NACC1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NACC1 was set to Unknown
17 Nov 2019	Cataract v0.0	MYH9	Zornitza Stark gene: MYH9 was added gene: MYH9 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH9 was set to Unknown
17 Nov 2019	Cataract v0.0	MIR184	Zornitza Stark gene: MIR184 was added gene: MIR184 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MIR184 was set to Unknown
17 Nov 2019	Cataract v0.0	MIP	Zornitza Stark gene: MIP was added gene: MIP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MIP was set to Unknown
17 Nov 2019	Cataract v0.0	MAN2B1	Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN2B1 was set to Unknown
17 Nov 2019	Cataract v0.0	MAF	Zornitza Stark gene: MAF was added gene: MAF was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAF was set to Unknown
17 Nov 2019	Cataract v0.0	LRBA	Zornitza Stark gene: LRBA was added gene: LRBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRBA was set to Unknown
17 Nov 2019	Cataract v0.0	LMX1B	Zornitza Stark gene: LMX1B was added gene: LMX1B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMX1B was set to Unknown
17 Nov 2019	Cataract v0.0	LIM2	Zornitza Stark gene: LIM2 was added gene: LIM2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIM2 was set to Unknown
17 Nov 2019	Cataract v0.0	LIG4	Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIG4 was set to Unknown
17 Nov 2019	Cataract v0.0	LARGE1	Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARGE1 was set to Unknown
17 Nov 2019	Cataract v0.0	JAM3	Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JAM3 was set to Unknown
17 Nov 2019	Cataract v0.0	ITPA	Zornitza Stark gene: ITPA was added gene: ITPA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITPA was set to Unknown
17 Nov 2019	Cataract v0.0	ITGB2	Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB2 was set to Unknown
17 Nov 2019	Cataract v0.0	INTS1	Zornitza Stark gene: INTS1 was added gene: INTS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INTS1 was set to Unknown
17 Nov 2019	Cataract v0.0	INPP5K	Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5K was set to Unknown
17 Nov 2019	Cataract v0.0	IL2RG	Zornitza Stark gene: IL2RG was added gene: IL2RG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL2RG was set to Unknown
17 Nov 2019	Cataract v0.0	IL10RB	Zornitza Stark gene: IL10RB was added gene: IL10RB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10RB was set to Unknown
17 Nov 2019	Cataract v0.0	IL10RA	Zornitza Stark gene: IL10RA was added gene: IL10RA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10RA was set to Unknown
17 Nov 2019	Cataract v0.0	IL10	Zornitza Stark gene: IL10 was added gene: IL10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10 was set to Unknown
17 Nov 2019	Cataract v0.0	IKBKG	Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown
17 Nov 2019	Cataract v0.0	ICOS	Zornitza Stark gene: ICOS was added gene: ICOS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ICOS was set to Unknown
17 Nov 2019	Cataract v0.0	HSF4	Zornitza Stark gene: HSF4 was added gene: HSF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSF4 was set to Unknown
17 Nov 2019	Cataract v0.0	HPS6	Zornitza Stark gene: HPS6 was added gene: HPS6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS6 was set to Unknown
17 Nov 2019	Cataract v0.0	HPS4	Zornitza Stark gene: HPS4 was added gene: HPS4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS4 was set to Unknown
17 Nov 2019	Cataract v0.0	HPS1	Zornitza Stark gene: HPS1 was added gene: HPS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS1 was set to Unknown
17 Nov 2019	Cataract v0.0	HMX1	Zornitza Stark gene: HMX1 was added gene: HMX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HMX1 was set to Unknown
17 Nov 2019	Cataract v0.0	GUCY2C	Zornitza Stark gene: GUCY2C was added gene: GUCY2C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCY2C was set to Unknown
17 Nov 2019	Cataract v0.0	GNPAT	Zornitza Stark gene: GNPAT was added gene: GNPAT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPAT was set to Unknown
17 Nov 2019	Cataract v0.0	GJA8	Zornitza Stark gene: GJA8 was added gene: GJA8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA8 was set to Unknown
17 Nov 2019	Cataract v0.0	GJA3	Zornitza Stark gene: GJA3 was added gene: GJA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA3 was set to Unknown
17 Nov 2019	Cataract v0.0	GJA1	Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA1 was set to Unknown
17 Nov 2019	Cataract v0.0	GCNT2	Zornitza Stark gene: GCNT2 was added gene: GCNT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCNT2 was set to Unknown
17 Nov 2019	Cataract v0.0	GALT	Zornitza Stark gene: GALT was added gene: GALT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALT was set to Unknown
17 Nov 2019	Cataract v0.0	GALK1	Zornitza Stark gene: GALK1 was added gene: GALK1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALK1 was set to Unknown
17 Nov 2019	Cataract v0.0	FYCO1	Zornitza Stark gene: FYCO1 was added gene: FYCO1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FYCO1 was set to Unknown
17 Nov 2019	Cataract v0.0	FTL	Zornitza Stark gene: FTL was added gene: FTL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FTL was set to Unknown
17 Nov 2019	Cataract v0.0	FOXP3	Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXP3 was set to Unknown
17 Nov 2019	Cataract v0.0	FOXE3	Zornitza Stark gene: FOXE3 was added gene: FOXE3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXE3 was set to Unknown
17 Nov 2019	Cataract v0.0	FKTN	Zornitza Stark gene: FKTN was added gene: FKTN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKTN was set to Unknown
17 Nov 2019	Cataract v0.0	FKRP	Zornitza Stark gene: FKRP was added gene: FKRP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKRP was set to Unknown
17 Nov 2019	Cataract v0.0	FBN1	Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBN1 was set to Unknown
17 Nov 2019	Cataract v0.0	FAM126A	Zornitza Stark gene: FAM126A was added gene: FAM126A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM126A was set to Unknown
17 Nov 2019	Cataract v0.0	ERCC8	Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC8 was set to Unknown
17 Nov 2019	Cataract v0.0	ERCC6	Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC6 was set to Unknown
17 Nov 2019	Cataract v0.0	ERCC3	Zornitza Stark gene: ERCC3 was added gene: ERCC3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC3 was set to Unknown
17 Nov 2019	Cataract v0.0	ERCC2	Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC2 was set to Unknown
17 Nov 2019	Cataract v0.0	EPHA2	Zornitza Stark gene: EPHA2 was added gene: EPHA2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPHA2 was set to Unknown
17 Nov 2019	Cataract v0.0	EPCAM	Zornitza Stark gene: EPCAM was added gene: EPCAM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPCAM was set to Unknown
17 Nov 2019	Cataract v0.0	DOCK8	Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DOCK8 was set to Unknown
17 Nov 2019	Cataract v0.0	DHCR7	Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHCR7 was set to Unknown
17 Nov 2019	Cataract v0.0	DCLRE1C	Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCLRE1C was set to Unknown
17 Nov 2019	Cataract v0.0	CYP51A1	Zornitza Stark gene: CYP51A1 was added gene: CYP51A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP51A1 was set to Unknown
17 Nov 2019	Cataract v0.0	CYP27A1	Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP27A1 was set to Unknown
17 Nov 2019	Cataract v0.0	CYBB	Zornitza Stark gene: CYBB was added gene: CYBB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYBB was set to Unknown
17 Nov 2019	Cataract v0.0	CYBA	Zornitza Stark gene: CYBA was added gene: CYBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYBA was set to Unknown
17 Nov 2019	Cataract v0.0	CTDP1	Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTDP1 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYGS	Zornitza Stark gene: CRYGS was added gene: CRYGS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGS was set to Unknown
17 Nov 2019	Cataract v0.0	CRYGD	Zornitza Stark gene: CRYGD was added gene: CRYGD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGD was set to Unknown
17 Nov 2019	Cataract v0.0	CRYGC	Zornitza Stark gene: CRYGC was added gene: CRYGC was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGC was set to Unknown
17 Nov 2019	Cataract v0.0	CRYBB3	Zornitza Stark gene: CRYBB3 was added gene: CRYBB3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB3 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYBB2	Zornitza Stark gene: CRYBB2 was added gene: CRYBB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB2 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYBB1	Zornitza Stark gene: CRYBB1 was added gene: CRYBB1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB1 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYBA4	Zornitza Stark gene: CRYBA4 was added gene: CRYBA4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBA4 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYBA1	Zornitza Stark gene: CRYBA1 was added gene: CRYBA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBA1 was set to Unknown
17 Nov 2019	Cataract v0.0	CRYAB	Zornitza Stark gene: CRYAB was added gene: CRYAB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYAB was set to Unknown
17 Nov 2019	Cataract v0.0	CRYAA	Zornitza Stark gene: CRYAA was added gene: CRYAA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYAA was set to Unknown
17 Nov 2019	Cataract v0.0	COL4A1	Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown
17 Nov 2019	Cataract v0.0	COL2A1	Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL2A1 was set to Unknown
17 Nov 2019	Cataract v0.0	COL18A1	Zornitza Stark gene: COL18A1 was added gene: COL18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL18A1 was set to Unknown
17 Nov 2019	Cataract v0.0	COL11A1	Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to Unknown
17 Nov 2019	Cataract v0.0	CHMP4B	Zornitza Stark gene: CHMP4B was added gene: CHMP4B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHMP4B was set to Unknown
17 Nov 2019	Cataract v0.0	CD40LG	Zornitza Stark gene: CD40LG was added gene: CD40LG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD40LG was set to Unknown
17 Nov 2019	Cataract v0.0	CD3G	Zornitza Stark gene: CD3G was added gene: CD3G was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD3G was set to Unknown
17 Nov 2019	Cataract v0.0	BTK	Zornitza Stark gene: BTK was added gene: BTK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BTK was set to Unknown
17 Nov 2019	Cataract v0.0	BFSP2	Zornitza Stark gene: BFSP2 was added gene: BFSP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BFSP2 was set to Unknown
17 Nov 2019	Cataract v0.0	BFSP1	Zornitza Stark gene: BFSP1 was added gene: BFSP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BFSP1 was set to Unknown
17 Nov 2019	Cataract v0.0	BCOR	Zornitza Stark gene: BCOR was added gene: BCOR was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BCOR was set to Unknown
17 Nov 2019	Cataract v0.0	B3GLCT	Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GLCT was set to Unknown
17 Nov 2019	Cataract v0.0	ALDH18A1	Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH18A1 was set to Unknown
17 Nov 2019	Cataract v0.0	AICDA	Zornitza Stark gene: AICDA was added gene: AICDA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AICDA was set to Unknown
17 Nov 2019	Cataract v0.0	AGPS	Zornitza Stark gene: AGPS was added gene: AGPS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGPS was set to Unknown
17 Nov 2019	Cataract v0.0	AGK	Zornitza Stark gene: AGK was added gene: AGK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGK was set to Unknown
17 Nov 2019	Cataract v0.0	ADAMTS10	Zornitza Stark gene: ADAMTS10 was added gene: ADAMTS10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS10 was set to Unknown
17 Nov 2019	Cataract v0.0	ADAM17	Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAM17 was set to Unknown
17 Nov 2019	Cataract v0.0	ADA	Zornitza Stark gene: ADA was added gene: ADA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADA was set to Unknown