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Syndromic Retinopathy v0.219 GPATCH11 Zornitza Stark Publications for gene: GPATCH11 were set to
Syndromic Retinopathy v0.218 GPATCH11 Zornitza Stark reviewed gene: GPATCH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 39572588; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.218 POLA2 Bryony Thompson Marked gene: POLA2 as ready
Syndromic Retinopathy v0.218 POLA2 Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.218 POLA2 Bryony Thompson Classified gene: POLA2 as Green List (high evidence)
Syndromic Retinopathy v0.218 POLA2 Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.217 POLA2 Bryony Thompson gene: POLA2 was added
gene: POLA2 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLA2 were set to 39616267
Phenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137
Review for gene: POLA2 was set to GREEN
Added comment: Retinal telangiectasias/exudates (Coats disease) is a feature of the phenotype. 5 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length.
Sources: Literature
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Classified gene: MAN2B1 as Green List (high evidence)
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.215 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 29859105
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to GREEN
Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can rarely be the presenting feature in apparent non-syndromic retinal dystrophy
Sources: Expert list
Syndromic Retinopathy v0.214 CEP76 Bryony Thompson Marked gene: CEP76 as ready
Syndromic Retinopathy v0.214 CEP76 Bryony Thompson Gene: cep76 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.214 CEP76 Bryony Thompson Classified gene: CEP76 as Green List (high evidence)
Syndromic Retinopathy v0.214 CEP76 Bryony Thompson Gene: cep76 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.213 CEP76 Mark Cleghorn gene: CEP76 was added
gene: CEP76 was added to Syndromic Retinopathy. Sources: Other
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP76 were set to complex neurodevelopmental disorder MONDO:0100038; Joubert syndrome; Bardet-Biedl syndrome; retinitis pigmentosa
Penetrance for gene: CEP76 were set to unknown
Review for gene: CEP76 was set to GREEN
Added comment: Erica Davis, Stanley Manne Children’s research institute, Chicago
ESHG presentation 4/6/24, unpublished

CEP76 associated with syndromic ciliopathy

CEP76 localizes to centrioles and basal body primary cilia
Role in normal centriolar duplication

Index case
Bardet Biedl syndrome
Compound heterozygous pLoF variants in CEP76

Via Gene matcher
7 cases in 7 families- biallelic CEP76 and various clinical features within ciliopathy spectrum:
Obesity
Ocular phenotype
Structural brain anomalies
Renal?

3/7 families clinical Dx Joubert syndrome
1/7 BBS
1/7 GDD/ID NOS
2/7 retinitis pigmentosa (1 of these with learning difficulties)

Mixture of biallelic pLOF and missense variant

CEP76 knockout zebrafish model shows retinal phenotype w photoreceptor loss, similar to homozygous known BBS4 pathogenic variant

Cell based fx studies with missense variants above, consistent with centriolar duplication dysfunction
Sources: Other
Syndromic Retinopathy v0.213 MPDZ Bryony Thompson Marked gene: MPDZ as ready
Syndromic Retinopathy v0.213 MPDZ Bryony Thompson Gene: mpdz has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.213 MPDZ Bryony Thompson Classified gene: MPDZ as Amber List (moderate evidence)
Syndromic Retinopathy v0.213 MPDZ Bryony Thompson Gene: mpdz has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.212 MPDZ Bryony Thompson gene: MPDZ was added
gene: MPDZ was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 36594712; 22159006; 21862650
Phenotypes for gene: MPDZ were set to hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219
Review for gene: MPDZ was set to AMBER
gene: MPDZ was marked as current diagnostic
Added comment: 2 reported siblings with syndromic maculopathy and 1 unpublished case with syndromic macular dystrophy (RMH). Multiple animal models with retinal degeneration consistent with RP/LCA.
Sources: Literature
Syndromic Retinopathy v0.211 HBS1L Zornitza Stark Marked gene: HBS1L as ready
Syndromic Retinopathy v0.211 HBS1L Zornitza Stark Gene: hbs1l has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.211 HBS1L Bryony Thompson Classified gene: HBS1L as Amber List (moderate evidence)
Syndromic Retinopathy v0.211 HBS1L Bryony Thompson Gene: hbs1l has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.210 HBS1L Bryony Thompson gene: HBS1L was added
gene: HBS1L was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: HBS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBS1L were set to 38966981; 24288412; 30707697
Phenotypes for gene: HBS1L were set to Retinal disorder MONDO:0005283
Review for gene: HBS1L was set to AMBER
Added comment: A single case with biallelic variants reported with retinal dystrophy, poor growth and neurodevelopmental delay (originally reported in 2013). A hypomorph mouse model demonstrated defective development of photoreceptor cells.
Sources: Literature
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Marked gene: ADAMTS18 as ready
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Gene: adamts18 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Phenotypes for gene: ADAMTS18 were changed from Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions to microcornea-myopic chorioretinal atrophy (MONDO:0014195)
Syndromic Retinopathy v0.208 ADAMTS18 Sangavi Sivagnanasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004057; Phenotypes: microcornea-myopic chorioretinal atrophy (MONDO:0014195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Marked gene: AGPAT3 as ready
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Classified gene: AGPAT3 as Amber List (moderate evidence)
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.207 AGPAT3 Ee Ming Wong gene: AGPAT3 was added
gene: AGPAT3 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Review for gene: AGPAT3 was set to GREEN
gene: AGPAT3 was marked as current diagnostic
Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence)
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.206 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 17239335; 25156245; 35205297
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Review for gene: MCOLN1 was set to GREEN
Added comment: patients with MCOLN1-associated mucolipidosis IV present with ocular phenotypes including retinal dystrophy.

Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).

The following are some of the reported cases:
PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.
PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.
PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.
Sources: Expert list
Syndromic Retinopathy v0.205 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness MIM#617879; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Marked gene: GPATCH11 as ready
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay
Syndromic Retinopathy v0.203 TUBB4B Chirag Patel reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.203 GPATCH11 Chirag Patel Classified gene: GPATCH11 as Green List (high evidence)
Syndromic Retinopathy v0.203 GPATCH11 Chirag Patel Gene: gpatch11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.202 GPATCH11 Chirag Patel gene: GPATCH11 was added
gene: GPATCH11 was added to Syndromic Retinopathy. Sources: Other
Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay
Review for gene: GPATCH11 was set to GREEN
gene: GPATCH11 was marked as current diagnostic
Added comment: ESHG 2023:
3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.
GPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).
Biallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies).
Mouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory
Sources: Other
Syndromic Retinopathy v0.201 INTS11 Zornitza Stark Marked gene: INTS11 as ready
Syndromic Retinopathy v0.201 INTS11 Zornitza Stark Gene: ints11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.201 INTS11 Zornitza Stark Classified gene: INTS11 as Green List (high evidence)
Syndromic Retinopathy v0.201 INTS11 Zornitza Stark Gene: ints11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.200 INTS11 Zornitza Stark gene: INTS11 was added
gene: INTS11 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711
Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428
Review for gene: INTS11 was set to GREEN
Added comment: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages.

Retinal dystrophy reported.
Sources: Expert Review
Syndromic Retinopathy v0.198 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Syndromic Retinopathy v0.198 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.198 CLCN2 Zornitza Stark Classified gene: CLCN2 as Green List (high evidence)
Syndromic Retinopathy v0.198 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.197 CLCN2 Michelle Torres gene: CLCN2 was added
gene: CLCN2 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 36964785
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia MIM# 615651
Review for gene: CLCN2 was set to GREEN
Added comment: The homozygous R753X was detected in a Chinese individual from a consanguineous family with leukodystrophy with ataxia (LKPAT) (described in a previous paper) as well as severe bilateral retinal degeneration with loss of photoreceptor and RPE.

Four additional patients with LKPAT (described elsewhere) have been reported with homozygous variants and ocular features (Table 1).

Transfection to HEK293T cells showed that R753X reduced channel activity compared to wild-type.

Additionally, patient iPSC-derived RPE cells carrying the R753X exhibited dysfunctional ClC-2 chloride channels and outer segment phagocytosis. These functions were rescued following the repair of the CLCN2 mutation using the CRISPR-Cas9 system. NB: No significant difference was observed in the R753X mRNA expression levels between the control and patient hiPSC-RPE cells (suggesting NMD escape).
Sources: Literature
Syndromic Retinopathy v0.197 Zornitza Stark HPO terms changed from to Retinopathy, HP:0000488
List of related panels changed from to Retinopathy; HP:0000488
Syndromic Retinopathy v0.196 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Syndromic Retinopathy v0.196 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Syndromic Retinopathy v0.196 RDH11 Zornitza Stark Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732
Syndromic Retinopathy v0.195 RDH11 Chirag Patel Classified gene: RDH11 as Amber List (moderate evidence)
Syndromic Retinopathy v0.195 RDH11 Chirag Patel Gene: rdh11 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.194 RDH11 Chirag Patel reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34988992; Phenotypes: ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM # 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.194 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Syndromic Retinopathy v0.194 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.194 HMX1 Zornitza Stark Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109
Syndromic Retinopathy v0.193 HMX1 Zornitza Stark Publications for gene: HMX1 were set to
Syndromic Retinopathy v0.192 HMX1 Zornitza Stark reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18423520, 25574057, 33465110, 32552830, 31691317; Phenotypes: Oculoauricular syndrome, MIM#612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.192 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9; Meckel syndrome 6; COACH syndrome to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845
Syndromic Retinopathy v0.191 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Syndromic Retinopathy v0.190 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19 (MIM#614844)
Syndromic Retinopathy v0.189 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.187 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007, 33531950; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.187 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Syndromic Retinopathy v0.187 PPP2R3C Zornitza Stark Marked gene: PPP2R3C as ready
Syndromic Retinopathy v0.187 PPP2R3C Zornitza Stark Gene: ppp2r3c has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.187 PPP2R3C Zornitza Stark Classified gene: PPP2R3C as Green List (high evidence)
Syndromic Retinopathy v0.187 PPP2R3C Zornitza Stark Gene: ppp2r3c has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.186 PPP2R3C Zornitza Stark gene: PPP2R3C was added
gene: PPP2R3C was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419
Review for gene: PPP2R3C was set to GREEN
Added comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility.
Sources: Literature
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Classified gene: RNU4ATAC as Green List (high evidence)
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.184 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 2801768; 29265708; 30368667
Phenotypes for gene: RNU4ATAC were set to Roifman syndrome, MIM# 616651; Lowry-Wood syndrome, MIM# 226960
Review for gene: RNU4ATAC was set to GREEN
Added comment: Retinal dystrophy reported.
Sources: Expert Review
Syndromic Retinopathy v0.183 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Syndromic Retinopathy v0.182 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Syndromic Retinopathy v0.182 TUB Zornitza Stark Marked gene: TUB as ready
Syndromic Retinopathy v0.182 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.182 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Syndromic Retinopathy v0.181 TUB Zornitza Stark Publications for gene: TUB were set to
Syndromic Retinopathy v0.180 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Syndromic Retinopathy v0.180 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.179 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.179 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Syndromic Retinopathy v0.178 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Marked gene: STX3 as ready
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 to Retinal dystrophy and microvillus inclusion disease, MIM#619446
Syndromic Retinopathy v0.177 STX3 Zornitza Stark Classified gene: STX3 as Green List (high evidence)
Syndromic Retinopathy v0.177 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.176 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Retinal dystrophy and microvillus inclusion disease, MIM#619446
Syndromic Retinopathy v0.176 STX3 Zornitza Stark gene: STX3 was added
gene: STX3 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386; 30909251; 29282386
Phenotypes for gene: STX3 were set to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446
Review for gene: STX3 was set to GREEN
Added comment: At least 5 unrelated families reported. STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.
Sources: Expert Review
Syndromic Retinopathy v0.175 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 MIM#616629 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Syndromic Retinopathy v0.174 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to 26487268
Syndromic Retinopathy v0.173 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326
Syndromic Retinopathy v0.172 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Syndromic Retinopathy v0.171 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) to Leber congenital amaurosis; Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Syndromic Retinopathy v0.170 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Syndromic Retinopathy v0.169 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Marked STR: SCA7 as ready
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.168 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 8908515; 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Literature
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Added comment: Comment on list classification: Added to panel as an STR under SCA7
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Syndromic Retinopathy v0.165 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24387990, 24387991; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.165 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to 23105016; 27799409
Syndromic Retinopathy v0.164 ACBD5 Zornitza Stark edited their review of gene: ACBD5: Added comment: PMID 33427402: additional report of 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old and a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*).; Changed publications: 27799409, 23105016, 33427402
Syndromic Retinopathy v0.164 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Syndromic Retinopathy v0.163 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Marked gene: MED12 as ready
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.163 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Syndromic Retinopathy v0.163 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.162 MED12 Chirag Patel gene: MED12 was added
gene: MED12 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MED12 was set to Other
Publications for gene: MED12 were set to PMID: 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726
Review for gene: MED12 was set to GREEN
Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).

Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.

Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: Literature
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Syndromic Retinopathy v0.160 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Syndromic Retinopathy v0.159 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.158 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to 33350591
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Review for gene: CTNNB1 was set to GREEN
Added comment: Multiple ocular defects reported in the context of this neurodevelopmental disorder, including vitreoretinopathy.
Sources: Expert Review
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.156 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Cohort of 20 individuals with a complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.154 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Marked gene: STN1 as ready
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.152 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to GREEN
Added comment: Three unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.

Retinal telangiectasia.
Sources: Literature
Syndromic Retinopathy v0.151 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Syndromic Retinopathy v0.151 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.151 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Syndromic Retinopathy v0.151 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.150 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Syndromic Retinopathy v0.149 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Syndromic Retinopathy v0.149 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.149 ALPK1 Zornitza Stark Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
Syndromic Retinopathy v0.148 ALPK1 Zornitza Stark edited their review of gene: ALPK1: Changed phenotypes: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
Syndromic Retinopathy v0.148 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Syndromic Retinopathy v0.148 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.148 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270
Syndromic Retinopathy v0.147 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Syndromic Retinopathy v0.146 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.145 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22279524, 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.145 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Syndromic Retinopathy v0.145 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.145 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335
Syndromic Retinopathy v0.144 TUBGCP4 Zornitza Stark Publications for gene: TUBGCP4 were set to
Syndromic Retinopathy v0.143 TUBGCP4 Zornitza Stark Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.142 TUBGCP4 Zornitza Stark reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.142 TRNT1 Zornitza Stark changed review comment from: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. . RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. RP/retinal dysfunction reported in more than 3 families, supportive functional data.
Syndromic Retinopathy v0.142 TRNT1 Zornitza Stark changed review comment from: The disorders associated with this gene likely represent a spectrum. RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. . RP/retinal dysfunction reported in more than 3 families, supportive functional data.
Syndromic Retinopathy v0.142 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Syndromic Retinopathy v0.142 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.142 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from Retinitis pigmentosa and erythrocytic microcytosis to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Syndromic Retinopathy v0.141 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Syndromic Retinopathy v0.140 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26494905, 28390992, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.140 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Syndromic Retinopathy v0.140 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.140 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315
Syndromic Retinopathy v0.139 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Syndromic Retinopathy v0.138 TREX1 Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.137 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17660820; Phenotypes: Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.137 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Syndromic Retinopathy v0.137 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.137 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091
Syndromic Retinopathy v0.136 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Syndromic Retinopathy v0.135 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.134 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 32687549, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.134 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Syndromic Retinopathy v0.134 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.134 RIMS2 Zornitza Stark Classified gene: RIMS2 as Green List (high evidence)
Syndromic Retinopathy v0.134 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.133 RIMS2 Zornitza Stark gene: RIMS2 was added
gene: RIMS2 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Review for gene: RIMS2 was set to GREEN
Added comment: Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families. Several individuals had autism. One had night blindness.
Sources: Expert Review
Syndromic Retinopathy v0.132 RDH11 Zornitza Stark Marked gene: RDH11 as ready
Syndromic Retinopathy v0.132 RDH11 Zornitza Stark Gene: rdh11 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.132 RDH11 Zornitza Stark Phenotypes for gene: RDH11 were changed from to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108
Syndromic Retinopathy v0.131 RDH11 Zornitza Stark Publications for gene: RDH11 were set to
Syndromic Retinopathy v0.130 RDH11 Zornitza Stark Mode of inheritance for gene: RDH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.129 RDH11 Zornitza Stark Classified gene: RDH11 as Red List (low evidence)
Syndromic Retinopathy v0.129 RDH11 Zornitza Stark Gene: rdh11 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.128 RDH11 Zornitza Stark reviewed gene: RDH11: Rating: RED; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.128 PNPLA6 Zornitza Stark edited their review of gene: PNPLA6: Changed publications: 24355708, 25033069
Syndromic Retinopathy v0.128 PNPLA6 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Choreoretinal dystrophy is part of the phenotype.
Sources: Expert list
Syndromic Retinopathy v0.128 PLK4 Zornitza Stark changed review comment from: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; to: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171, three unrelated families reported.
Syndromic Retinopathy v0.128 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Syndromic Retinopathy v0.128 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.128 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330
Syndromic Retinopathy v0.127 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.126 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM# 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.126 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Syndromic Retinopathy v0.126 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.126 TINF2 Zornitza Stark Classified gene: TINF2 as Green List (high evidence)
Syndromic Retinopathy v0.126 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.125 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TINF2 were set to 18252230; 21477109; 28095086; 28866069; 29749240; 30478948
Phenotypes for gene: TINF2 were set to Revesz syndrome, 268130
Review for gene: TINF2 was set to GREEN
Added comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.
Sources: Expert list
Syndromic Retinopathy v0.124 MTTP Zornitza Stark Marked gene: MTTP as ready
Syndromic Retinopathy v0.124 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.124 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from to Abetalipoproteinemia, MIM# 200100
Syndromic Retinopathy v0.123 MTTP Zornitza Stark Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.122 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.122 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Syndromic Retinopathy v0.122 MFN2 Zornitza Stark Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.122 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
Syndromic Retinopathy v0.121 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Syndromic Retinopathy v0.120 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.119 MFN2 Zornitza Stark Classified gene: MFN2 as Amber List (moderate evidence)
Syndromic Retinopathy v0.119 MFN2 Zornitza Stark Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.118 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30922813, 28487236, 21707411, 22957060; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.118 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Syndromic Retinopathy v0.118 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.118 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from to Poretti-Boltshauser syndrome, MIM# 615960
Syndromic Retinopathy v0.117 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.116 LAMA1 Zornitza Stark reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.116 INVS Zornitza Stark Marked gene: INVS as ready
Syndromic Retinopathy v0.116 INVS Zornitza Stark Gene: invs has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.116 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile to Nephronophthisis 2, infantile, MIM#602088
Syndromic Retinopathy v0.115 INVS Zornitza Stark Publications for gene: INVS were set to
Syndromic Retinopathy v0.114 INVS Zornitza Stark Classified gene: INVS as Amber List (moderate evidence)
Syndromic Retinopathy v0.114 INVS Zornitza Stark Gene: invs has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.113 INVS Zornitza Stark reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: None; Publications: 16522655; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.113 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Syndromic Retinopathy v0.113 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.113 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Syndromic Retinopathy v0.113 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.112 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: IKBKG was set to Other
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, MIM# 308300
Review for gene: IKBKG was set to GREEN
Added comment: Well established gene-disease association. Eye involvement is variable, but retinal abnormalities are common including retinal vascular proliferation, retinal ischaemia, retinal bleeding, retinal fibrosis, retinal detachment, foveal hypoplasia, foveal disorganisation.
Sources: Expert list
Syndromic Retinopathy v0.111 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Syndromic Retinopathy v0.111 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.111 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Syndromic Retinopathy v0.110 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Syndromic Retinopathy v0.109 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.108 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Syndromic Retinopathy v0.108 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.107 IFT81 Zornitza Stark changed review comment from: Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence of retinal phenotype.; to: Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence for retinal phenotype.
Syndromic Retinopathy v0.107 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 28460050, 26275418, 27666822, 32783357; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.106 HCCS Zornitza Stark Marked gene: HCCS as ready
Syndromic Retinopathy v0.106 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.106 HCCS Zornitza Stark Classified gene: HCCS as Green List (high evidence)
Syndromic Retinopathy v0.106 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.105 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: HCCS was set to Other
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Review for gene: HCCS was set to GREEN
Added comment: Complex disorder typically associated with microphthalmia and structural eye abnormalities, however pigmentary retinopathy also reported.
Sources: Expert list
Syndromic Retinopathy v0.104 GRN Zornitza Stark changed review comment from: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.; to: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also limited reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.
Syndromic Retinopathy v0.104 GRN Zornitza Stark Publications for gene: GRN were set to
Syndromic Retinopathy v0.103 GRN Zornitza Stark edited their review of gene: GRN: Added comment: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.; Changed publications: 31855245, 28404863, 30922528
Syndromic Retinopathy v0.103 EXOSC2 Zornitza Stark Marked gene: EXOSC2 as ready
Syndromic Retinopathy v0.103 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.103 EXOSC2 Zornitza Stark Phenotypes for gene: EXOSC2 were changed from to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Syndromic Retinopathy v0.102 EXOSC2 Zornitza Stark Publications for gene: EXOSC2 were set to
Syndromic Retinopathy v0.101 EXOSC2 Zornitza Stark Mode of inheritance for gene: EXOSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.100 AIRE Zornitza Stark Marked gene: AIRE as ready
Syndromic Retinopathy v0.100 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.100 AIRE Zornitza Stark Classified gene: AIRE as Green List (high evidence)
Syndromic Retinopathy v0.100 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.99 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Syndromic Retinopathy. Sources: NHS GMS
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 27606815
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Review for gene: AIRE was set to GREEN
Added comment: Retinopathy is a feature: peripheral pigmentary changes are noted in all cases, ranging from isolated patchy atrophy of the retinal pigment epithelium to a retinitis pigmentosa-like fundus. Macular atrophy with vision loss is found in most. The severity of ophthalmic findings is uncorrelated to that of systemic manifestations. An autoimmune origin with specific autoantibodies directed against corneal and/or retinal autoantigens is the main mechanism believed to be responsible for the ocular manifestations of APS1.
Sources: NHS GMS
Syndromic Retinopathy v0.98 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Syndromic Retinopathy v0.98 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.98 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, MIM#264800
Syndromic Retinopathy v0.97 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.96 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.96 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Syndromic Retinopathy v0.96 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.96 MFSD8 Zornitza Stark Classified gene: MFSD8 as Green List (high evidence)
Syndromic Retinopathy v0.96 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.95 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 OMIM #610951
Review for gene: MFSD8 was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.94 ACBD5 Zornitza Stark Marked gene: ACBD5 as ready
Syndromic Retinopathy v0.94 ACBD5 Zornitza Stark Gene: acbd5 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.94 ACBD5 Zornitza Stark Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy (MIM#618863)
Syndromic Retinopathy v0.93 ACBD5 Zornitza Stark Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.92 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.92 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Syndromic Retinopathy v0.92 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.92 TPP1 Zornitza Stark Classified gene: TPP1 as Green List (high evidence)
Syndromic Retinopathy v0.92 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.91 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
Review for gene: TPP1 was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Classified gene: PPT1 as Green List (high evidence)
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.89 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Review for gene: PPT1 was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.88 GRN Zornitza Stark Marked gene: GRN as ready
Syndromic Retinopathy v0.88 GRN Zornitza Stark Gene: grn has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.88 GRN Zornitza Stark Classified gene: GRN as Green List (high evidence)
Syndromic Retinopathy v0.88 GRN Zornitza Stark Gene: grn has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.87 GRN Zornitza Stark gene: GRN was added
gene: GRN was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, OMIM #614706
Review for gene: GRN was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.86 CTSF Zornitza Stark Marked gene: CTSF as ready
Syndromic Retinopathy v0.86 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.86 CTSF Zornitza Stark Classified gene: CTSF as Green List (high evidence)
Syndromic Retinopathy v0.86 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.85 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362
Review for gene: CTSF was set to GREEN
Added comment: Retinal degeneration is a feature.
Sources: Expert Review
Syndromic Retinopathy v0.84 CTSD Zornitza Stark Marked gene: CTSD as ready
Syndromic Retinopathy v0.84 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.84 CTSD Zornitza Stark Classified gene: CTSD as Green List (high evidence)
Syndromic Retinopathy v0.84 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.83 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, OMIM #610127
Review for gene: CTSD was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.82 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Syndromic Retinopathy v0.82 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.82 CLN8 Zornitza Stark Classified gene: CLN8 as Green List (high evidence)
Syndromic Retinopathy v0.82 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.81 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 OMIM #600143
Review for gene: CLN8 was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review
Syndromic Retinopathy v0.80 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Syndromic Retinopathy v0.79 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Syndromic Retinopathy v0.79 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.79 CLN6 Zornitza Stark Classified gene: CLN6 as Green List (high evidence)
Syndromic Retinopathy v0.79 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.78 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 OMIM #601780
Review for gene: CLN6 was set to GREEN
Added comment: Retinal degeneration is a feature.
Sources: Expert Review
Syndromic Retinopathy v0.77 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Syndromic Retinopathy v0.77 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.77 CLN5 Zornitza Stark Classified gene: CLN5 as Green List (high evidence)
Syndromic Retinopathy v0.77 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.76 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 OMIM #256731
Review for gene: CLN5 was set to GREEN
Added comment: Retinal degeneration is a feature.
Sources: Expert Review
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Marked gene: PLK4 as ready
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
Syndromic Retinopathy v0.74 PLK4 Zornitza Stark Publications for gene: PLK4 were set to
Syndromic Retinopathy v0.73 PLK4 Zornitza Stark Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.72 PLK4 Zornitza Stark reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.72 POC5 Bryony Thompson Phenotypes for gene: POC5 were changed from to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Syndromic Retinopathy v0.71 POC5 Bryony Thompson Publications for gene: POC5 were set to
Syndromic Retinopathy v0.70 POC5 Bryony Thompson Mode of inheritance for gene: POC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.68 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Green List (high evidence)
Syndromic Retinopathy v0.68 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.67 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 31385551; 18394578; 14409555
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Marked gene: TMEM231 as ready
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Classified gene: TMEM231 as Green List (high evidence)
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.65 TMEM231 Bryony Thompson gene: TMEM231 was added
gene: TMEM231 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 27449316
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970
Review for gene: TMEM231 was set to GREEN
Added comment: Three unrelated families reported with retinopathy as a feature of the condition.
Sources: Expert list
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Marked gene: TMEM107 as ready
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Classified gene: TMEM107 as Amber List (moderate evidence)
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.63 TMEM107 Bryony Thompson gene: TMEM107 was added
gene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26595381
Phenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563
Review for gene: TMEM107 was set to AMBER
Added comment: A set of twins and an unrelated case reported with retinopathy as a feature of the condition.
Sources: Expert list
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Marked gene: SRD5A3 as ready
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Classified gene: SRD5A3 as Green List (high evidence)
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.61 SRD5A3 Bryony Thompson gene: SRD5A3 was added
gene: SRD5A3 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 31638560
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq MIM#612379
Review for gene: SRD5A3 was set to GREEN
Added comment: Retinopathy is a reported feature of the condition in >3 cases.
Sources: Expert list
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Marked gene: SCLT1 as ready
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Gene: sclt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Classified gene: SCLT1 as Green List (high evidence)
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Gene: sclt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.59 SCLT1 Bryony Thompson gene: SCLT1 was added
gene: SCLT1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 32253632; 30425282
Phenotypes for gene: SCLT1 were set to Bardet Biedl syndrome; Senior-Loken syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: Three unrelated cases reported with retinal dystrophy as a feature of the condition (2 with BBS and 1 with SLS).
Sources: Expert list
Syndromic Retinopathy v0.58 SCAPER Bryony Thompson Deleted their review
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Marked gene: SCAPER as ready
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Classified gene: SCAPER as Green List (high evidence)
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.56 SCAPER Bryony Thompson gene: SCAPER was added
gene: SCAPER was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Syndromic Retinopathy v0.55 PISD Bryony Thompson gene: PISD was added
gene: PISD was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 31263216
Phenotypes for gene: PISD were set to Liberfarb syndrome MIM#618889
Review for gene: PISD was set to RED
Added comment: Retinal degeneration is reported in two families with the same homozygous variant and an apparently common ancestor, based on haplotype analysis.
Sources: Expert list
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Marked gene: PEX26 as ready
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Gene: pex26 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Classified gene: PEX26 as Amber List (moderate evidence)
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Gene: pex26 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.53 PEX26 Bryony Thompson gene: PEX26 was added
gene: PEX26 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 28944237
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM#614873
Review for gene: PEX26 was set to AMBER
Added comment: Two cases reported with retinitis pigmentosa as a feature of the condition.
Sources: Expert list
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Marked gene: MMACHC as ready
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.51 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 28481040
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases.
Sources: Expert list
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Marked gene: LRP2 as ready
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Gene: lrp2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Classified gene: LRP2 as Green List (high evidence)
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Gene: lrp2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.49 LRP2 Bryony Thompson gene: LRP2 was added
gene: LRP2 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: At least 3 families reported with retinopathy as a feature of the condition.
Sources: Expert list
Syndromic Retinopathy v0.48 Bryony Thompson removed gene:KCNJ13 from the panel
Syndromic Retinopathy v0.46 Bryony Thompson removed gene:COL9A1 from the panel
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Marked gene: ARL3 as ready
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.44 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert list
Syndromic Retinopathy v0.43 DTHD1 Bryony Thompson gene: DTHD1 was added
gene: DTHD1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: DTHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTHD1 were set to 23105016
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with muscle dystrophy
Review for gene: DTHD1 was set to RED
Added comment: Single family reported with homozygous initiation codon variant. Reduced protein expression demonstrated by Western blot.
Sources: Expert list
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Marked gene: CTC1 as ready
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Gene: ctc1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Classified gene: CTC1 as Green List (high evidence)
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Gene: ctc1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.40 CTC1 Bryony Thompson gene: CTC1 was added
gene: CTC1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Review for gene: CTC1 was set to GREEN
Added comment: Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert list
Syndromic Retinopathy v0.38 Bryony Thompson removed gene:BBIP1 from the panel
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Marked gene: VPS13B as ready
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Classified gene: VPS13B as Green List (high evidence)
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.36 VPS13B Bryony Thompson gene: VPS13B was added
gene: VPS13B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 31580008; 24334764
Phenotypes for gene: VPS13B were set to Cohen syndrome MIM#216550
Review for gene: VPS13B was set to GREEN
Added comment: Retinopathy is a common feature of the condition. >10 cases reported.
Sources: Expert list
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Marked gene: TUBB4B as ready
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Gene: tubb4b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Classified gene: TUBB4B as Green List (high evidence)
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Gene: tubb4b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.33 TUBB4B Bryony Thompson gene: TUBB4B was added
gene: TUBB4B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to 29198720
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to GREEN
Added comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth.
Sources: Expert list
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Marked gene: TRAF3IP1 as ready
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Gene: traf3ip1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Classified gene: TRAF3IP1 as Green List (high evidence)
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Gene: traf3ip1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.31 TRAF3IP1 Bryony Thompson gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP1 were set to 26487268
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 MIM#616629
Review for gene: TRAF3IP1 was set to GREEN
Added comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration.
Sources: Expert list
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Marked gene: MSTO1 as ready
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Classified gene: MSTO1 as Green List (high evidence)
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.29 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28544275
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants.
Sources: Expert list
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Marked gene: HACE1 as ready
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Classified gene: HACE1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.27 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Review for gene: HACE1 was set to AMBER
Added comment: Retinal dystrophy reported as a feature of the condition in two families.
Sources: Expert list
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Publications for gene: ADIPOR1 were set to
Syndromic Retinopathy v0.25 ADIPOR1 Zornitza Stark Classified gene: ADIPOR1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.25 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark changed review comment from: Not syndromic.; to: ID and obesity in addition to RP reported with bi-allelic disease.
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark edited their review of gene: ADIPOR1: Changed rating: AMBER
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark reviewed gene: ADIPOR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Marked gene: ERCC8 as ready
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Gene: ercc8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Classified gene: ERCC8 as Green List (high evidence)
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Gene: ercc8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.23 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC8 were set to 26204423
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400
Review for gene: ERCC8 was set to GREEN
Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%).
Sources: Literature
Syndromic Retinopathy v0.22 ERCC6 Bryony Thompson Classified gene: ERCC6 as Green List (high evidence)
Syndromic Retinopathy v0.22 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.21 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6 were set to 26204423
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B MIM#133540
Review for gene: ERCC6 was set to GREEN
Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%).
Sources: Expert list
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Marked gene: CNNM4 as ready
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Gene: cnnm4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Classified gene: CNNM4 as Green List (high evidence)
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Gene: cnnm4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.18 CNNM4 Bryony Thompson gene: CNNM4 was added
gene: CNNM4 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNNM4 were set to 30705057
Phenotypes for gene: CNNM4 were set to Jalili syndrome MIM#217080
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Marked gene: BBIP1 as ready
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Classified gene: BBIP1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.16 BBIP1 Bryony Thompson gene: BBIP1 was added
gene: BBIP1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18 MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single case with homozygous stopgain that has retinitis pigmentosa has a feature of the syndromic phenotype. A null zebrafish model also has a retinal phenotype.
Sources: Expert list
Syndromic Retinopathy v0.15 ATXN7 Bryony Thompson Tag STR tag was added to gene: ATXN7.
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Marked gene: ARMC9 as ready
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Gene: armc9 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Classified gene: ARMC9 as Amber List (moderate evidence)
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Gene: armc9 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.14 ARMC9 Bryony Thompson gene: ARMC9 was added
gene: ARMC9 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 MIM#617622
Review for gene: ARMC9 was set to AMBER
Added comment: Retinal dystrophy has been reported in two out of nine cases. Knockout of Armc9 in zebrafish resulted in curved body shape, retinal dystrophy, coloboma, reduced cilia number in ventricles, and shortened cilia in photoreceptor outer segments.
Sources: Expert list
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Marked gene: ARL13B as ready
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Classified gene: ARL13B as Green List (high evidence)
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.12 ARL13B Bryony Thompson gene: ARL13B was added
gene: ARL13B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 18674751; 30573647; 25138100; 29255182
Phenotypes for gene: ARL13B were set to Joubert syndrome 8 MIM#612291
Review for gene: ARL13B was set to GREEN
Added comment: At least three families reported with retinopathy as a feature of the syndrome. An Arl13b null mouse has defects in retinal development with reduced cell proliferation.
Sources: Expert list
Syndromic Retinopathy v0.10 ALPK1 Bryony Thompson Classified gene: ALPK1 as Green List (high evidence)
Syndromic Retinopathy v0.10 ALPK1 Bryony Thompson Gene: alpk1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.9 ALPK1 Bryony Thompson gene: ALPK1 was added
gene: ALPK1 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 30967659; 31939038
Phenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Syndromic Retinopathy v0.8 ACBD5 Bryony Thompson Publications for gene: ACBD5 were set to
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Marked gene: POC5 as ready
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Classified gene: POC5 as Amber List (moderate evidence)
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.5 POC5 Bryony Thompson reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29272404; Phenotypes: retinitis pigmentosa, short stature, microcephaly, recurrent glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.5 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Syndromic Retinopathy v0.4 HARS Bryony Thompson Classified gene: HARS as Red List (low evidence)
Syndromic Retinopathy v0.4 HARS Bryony Thompson Gene: hars has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital
Syndromic Retinopathy v0.0 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TIMM8A was set to Unknown
Syndromic Retinopathy v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209; Joubert syndrome 10, 300804
Syndromic Retinopathy v0.0 ZNF423 Bryony Thompson gene: ZNF423 was added
gene: ZNF423 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WFS1 was set to Unknown
Syndromic Retinopathy v0.0 WDR19 Bryony Thompson gene: WDR19 was added
gene: WDR19 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TUBGCP6 Bryony Thompson gene: TUBGCP6 was added
gene: TUBGCP6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Syndromic Retinopathy v0.0 TUBGCP4 Bryony Thompson gene: TUBGCP4 was added
gene: TUBGCP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Syndromic Retinopathy v0.0 TUB Bryony Thompson gene: TUB was added
gene: TUB was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TTPA was set to Unknown
Syndromic Retinopathy v0.0 TRNT1 Bryony Thompson gene: TRNT1 was added
gene: TRNT1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis
Syndromic Retinopathy v0.0 TMEM237 Bryony Thompson gene: TMEM237 was added
gene: TMEM237 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TMEM216 Bryony Thompson gene: TMEM216 was added
gene: TMEM216 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TMEM216 was set to Unknown
Syndromic Retinopathy v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: SLC25A46 was set to Unknown
Syndromic Retinopathy v0.0 SDCCAG8 Bryony Thompson gene: SDCCAG8 was added
gene: SDCCAG8 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 RPGRIP1L Bryony Thompson gene: RPGRIP1L was added
gene: RPGRIP1L was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5; Joubert syndrome 7; COACH syndrome
Syndromic Retinopathy v0.0 RDH11 Bryony Thompson gene: RDH11 was added
gene: RDH11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: RDH11 was set to Unknown
Syndromic Retinopathy v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Syndromic Retinopathy v0.0 POC1B Bryony Thompson gene: POC1B was added
gene: POC1B was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20, 615973
Syndromic Retinopathy v0.0 POC5 Bryony Thompson gene: POC5 was added
gene: POC5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: POC5 was set to Unknown
Syndromic Retinopathy v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PNPLA6 was set to Unknown
Syndromic Retinopathy v0.0 PLK4 Bryony Thompson gene: PLK4 was added
gene: PLK4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PLK4 was set to Unknown
Syndromic Retinopathy v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Syndromic Retinopathy v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Syndromic Retinopathy v0.0 PEX2 Bryony Thompson gene: PEX2 was added
gene: PEX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580
Syndromic Retinopathy v0.0 PCYT1A Bryony Thompson gene: PCYT1A was added
gene: PCYT1A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Syndromic Retinopathy v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to HARP syndrome; Neurodegeneration with brain iron accumulation 1
Syndromic Retinopathy v0.0 NPHP4 Bryony Thompson gene: NPHP4 was added
gene: NPHP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 NPHP3 Bryony Thompson gene: NPHP3 was added
gene: NPHP3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 NPHP1 Bryony Thompson gene: NPHP1 was added
gene: NPHP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MTTP was set to Unknown
Syndromic Retinopathy v0.0 MKS1 Bryony Thompson gene: MKS1 was added
gene: MKS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 LRP5 Bryony Thompson gene: LRP5 was added
gene: LRP5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4
Syndromic Retinopathy v0.0 LAMA1 Bryony Thompson gene: LAMA1 was added
gene: LAMA1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: LAMA1 was set to Unknown
Syndromic Retinopathy v0.0 IQCB1 Bryony Thompson gene: IQCB1 was added
gene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)
Syndromic Retinopathy v0.0 INVS Bryony Thompson gene: INVS was added
gene: INVS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile
Syndromic Retinopathy v0.0 INPP5E Bryony Thompson gene: INPP5E was added
gene: INPP5E was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 IFT81 Bryony Thompson gene: IFT81 was added
gene: IFT81 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IFT81 was set to Unknown
Syndromic Retinopathy v0.0 IFT140 Bryony Thompson gene: IFT140 was added
gene: IFT140 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80
Syndromic Retinopathy v0.0 HMX1 Bryony Thompson gene: HMX1 was added
gene: HMX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 HGSNAT Bryony Thompson gene: HGSNAT was added
gene: HGSNAT was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73
Syndromic Retinopathy v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Syndromic Retinopathy v0.0 GNPTG Bryony Thompson gene: GNPTG was added
gene: GNPTG was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma; Genetic Retinal Degeneration Conditions
Syndromic Retinopathy v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033
Syndromic Retinopathy v0.0 EXOSC2 Bryony Thompson gene: EXOSC2 was added
gene: EXOSC2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: EXOSC2 was set to Unknown
Syndromic Retinopathy v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Syndromic Retinopathy v0.0 CSPP1 Bryony Thompson gene: CSPP1 was added
gene: CSPP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21
Syndromic Retinopathy v0.0 COL9A1 Bryony Thompson gene: COL9A1 was added
gene: COL9A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV
Syndromic Retinopathy v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Juvenile neuronal ceroid lipofuscinosis; Retinitis pigmentosa
Syndromic Retinopathy v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Meckel syndrome 4, 611134; Senior-Loken syndrome 6, 610189; Bardet-Biedl syndrome 14, 209900; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188
Syndromic Retinopathy v0.0 CEP164 Bryony Thompson gene: CEP164 was added
gene: CEP164 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 CC2D2A Bryony Thompson gene: CC2D2A was added
gene: CC2D2A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome
Syndromic Retinopathy v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Syndromic Retinopathy v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 17
Syndromic Retinopathy v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Syndromic Retinopathy v0.0 ADAMTS18 Bryony Thompson gene: ADAMTS18 was added
gene: ADAMTS18 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions
Syndromic Retinopathy v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559
Syndromic Retinopathy v0.0 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ACBD5 was set to Unknown
Syndromic Retinopathy v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Syndromic Retinopathy v0.0 VCAN Bryony Thompson gene: VCAN was added
gene: VCAN was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VCAN were set to Wagner Syndrome
Syndromic Retinopathy v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TREX1 was set to Unknown
Syndromic Retinopathy v0.0 PAX2 Bryony Thompson gene: PAX2 was added
gene: PAX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PAX2 was set to Unknown
Syndromic Retinopathy v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OPA3 were set to Autosomal Dominant Optic Atrophy
Syndromic Retinopathy v0.0 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MFN2 was set to Unknown
Syndromic Retinopathy v0.0 KIF11 Bryony Thompson gene: KIF11 was added
gene: KIF11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950
Syndromic Retinopathy v0.0 KCNJ13 Bryony Thompson gene: KCNJ13 was added
gene: KCNJ13 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: KCNJ13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230
Syndromic Retinopathy v0.0 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: JAG1 was set to Unknown
Syndromic Retinopathy v0.0 COL2A1 Bryony Thompson gene: COL2A1 was added
gene: COL2A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to Stickler syndrome, type I
Syndromic Retinopathy v0.0 COL11A1 Bryony Thompson gene: COL11A1 was added
gene: COL11A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II, MIM#604841
Syndromic Retinopathy v0.0 ATXN7 Bryony Thompson gene: ATXN7 was added
gene: ATXN7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ATXN7 was set to Unknown
Syndromic Retinopathy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: AFG3L2 was set to Unknown
Syndromic Retinopathy v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ABCC6 was set to Unknown
Syndromic Retinopathy v0.0 Bryony Thompson Added panel Syndromic Retinopathy