Activity

Filter

Cancel
Date Panel Item Activity
1193 actions
Retinal disorders v2.14 EVR3 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: EVR3.
Retinal disorders v2.14 DYNC2H1 Eleanor Williams gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.
Note this gene produces a dynein-2 protein that is found in cilia.
No publication relating to this work has been found in PubMed at this time.
Sources: Literature
Retinal disorders v2.13 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Retinal disorders v2.13 USP45 Ivone Leong Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513
Retinal disorders v2.12 DRAM2 Ivone Leong Classified gene: DRAM2 as Green List (high evidence)
Retinal disorders v2.12 DRAM2 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.
Retinal disorders v2.12 DRAM2 Ivone Leong Gene: dram2 has been classified as Green List (High Evidence).
Retinal disorders v2.11 DRAM2 Ivone Leong Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21, 616502; macular dystrophy; cone-dystrophy
Retinal disorders v2.10 DRAM2 Ivone Leong Publications for gene: DRAM2 were set to
Retinal disorders v2.9 DRAM2 Ivone Leong Mode of inheritance for gene: DRAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.8 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Retinal disorders v2.8 USP45 Zornitza Stark gene: USP45 was added
gene: USP45 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Lebers congenital amaurosis; retinal dystrophy
Review for gene: USP45 was set to GREEN
gene: USP45 was marked as current diagnostic
Added comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies recapitulate retinal phenotype
Sources: Literature
Retinal disorders v2.8 ABCC6 Gavin Arno reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PSEUDOXANTHOMA ELASTICUM (PXE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.8 Sarah Leigh Panel version has been signed off
Retinal disorders v2.6 DRAM2 Andrew Webster reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 26720460, 31394102; Phenotypes: macular dystrophy, cone-dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.6 TUB Louise Daugherty commented on gene: TUB
Retinal disorders v2.6 TUB Louise Daugherty Tag watchlist was removed from gene: TUB.
Retinal disorders v2.6 ABCA4 Louise Daugherty Tag watchlist was removed from gene: ABCA4.
Retinal disorders v2.5 TUBGCP6 Ivone Leong reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TUBGCP4 Ivone Leong reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TTPA Ivone Leong reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TRNT1 Ivone Leong reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TREX1 Ivone Leong reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SPP2 Ivone Leong reviewed gene: SPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SAMD11 Ivone Leong reviewed gene: SAMD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RTN4IP1 Ivone Leong reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RDH11 Ivone Leong reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PRDM13 Ivone Leong reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POMGNT1 Ivone Leong reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POC5 Ivone Leong reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PNPLA6 Ivone Leong reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PLK4 Ivone Leong reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PGK1 Ivone Leong reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PAX2 Ivone Leong reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 OPN1SW Ivone Leong reviewed gene: OPN1SW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NBAS Ivone Leong reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TS2 Ivone Leong reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TP Ivone Leong reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TH Ivone Leong reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MIR204 Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MAPKAPK3 Ivone Leong reviewed gene: MAPKAPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 LAMA1 Ivone Leong reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 JAG1 Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT81 Ivone Leong reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT27 Ivone Leong reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT172 Ivone Leong reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 GNB3 Ivone Leong reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 EXOSC2 Ivone Leong reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ESPN Ivone Leong reviewed gene: ESPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ELOVL1 Ivone Leong reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DRAM2 Ivone Leong reviewed gene: DRAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DMD Ivone Leong reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CTNNA1 Ivone Leong reviewed gene: CTNNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLUAP1 Ivone Leong reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLCC1 Ivone Leong reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP250 Ivone Leong reviewed gene: CEP250: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP19 Ivone Leong reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CCT2 Ivone Leong reviewed gene: CCT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 C12orf65 Ivone Leong reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ATXN7 Ivone Leong reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ASRGL1 Ivone Leong reviewed gene: ASRGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARSG Ivone Leong reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARL3 Ivone Leong reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AHR Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ADIPOR1 Ivone Leong reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ABCC6 Ivone Leong reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.4 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v2.4 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Retinal disorders v2.3 TUBGCP6 Ivone Leong gene: TUBGCP6 was added
gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP6 was set to
Retinal disorders v2.3 TUBGCP4 Ivone Leong gene: TUBGCP4 was added
gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP4 was set to
Retinal disorders v2.3 TTPA Ivone Leong gene: TTPA was added
gene: TTPA was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TTPA was set to
Retinal disorders v2.3 TRNT1 Ivone Leong gene: TRNT1 was added
gene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TRNT1 was set to
Retinal disorders v2.3 TREX1 Ivone Leong gene: TREX1 was added
gene: TREX1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TREX1 was set to
Retinal disorders v2.3 SPP2 Ivone Leong gene: SPP2 was added
gene: SPP2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SPP2 was set to
Retinal disorders v2.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to
Retinal disorders v2.3 SAMD11 Ivone Leong gene: SAMD11 was added
gene: SAMD11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SAMD11 was set to
Retinal disorders v2.3 RTN4IP1 Ivone Leong gene: RTN4IP1 was added
gene: RTN4IP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RTN4IP1 was set to
Retinal disorders v2.3 REEP6 Ivone Leong Source Expert Review Amber was added to REEP6.
Source RetNet was added to REEP6.
Source NHS GMS was added to REEP6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v2.3 RDH11 Ivone Leong gene: RDH11 was added
gene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RDH11 was set to
Retinal disorders v2.3 PRDM13 Ivone Leong gene: PRDM13 was added
gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PRDM13 was set to
Retinal disorders v2.3 POMGNT1 Ivone Leong gene: POMGNT1 was added
gene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POMGNT1 was set to
Retinal disorders v2.3 POC5 Ivone Leong gene: POC5 was added
gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POC5 was set to
Retinal disorders v2.3 PNPLA6 Ivone Leong gene: PNPLA6 was added
gene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to
Retinal disorders v2.3 PLK4 Ivone Leong gene: PLK4 was added
gene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PLK4 was set to
Retinal disorders v2.3 PGK1 Ivone Leong gene: PGK1 was added
gene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PGK1 was set to
Retinal disorders v2.3 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PAX2 was set to
Retinal disorders v2.3 OPN1SW Ivone Leong gene: OPN1SW was added
gene: OPN1SW was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: OPN1SW was set to
Retinal disorders v2.3 NEUROD1 Ivone Leong gene: NEUROD1 was added
gene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to
Retinal disorders v2.3 NBAS Ivone Leong gene: NBAS was added
gene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NBAS was set to
Retinal disorders v2.3 MT-TS2 Ivone Leong gene: MT-TS2 was added
gene: MT-TS2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TP Ivone Leong gene: MT-TP was added
gene: MT-TP was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TH Ivone Leong gene: MT-TH was added
gene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Retinal disorders v2.3 MIR204 Ivone Leong gene: MIR204 was added
gene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MIR204 was set to
Retinal disorders v2.3 MAPKAPK3 Ivone Leong gene: MAPKAPK3 was added
gene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MAPKAPK3 was set to
Retinal disorders v2.3 LAMA1 Ivone Leong gene: LAMA1 was added
gene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: LAMA1 was set to
Retinal disorders v2.3 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: JAG1 was set to
Retinal disorders v2.3 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT81 was set to
Retinal disorders v2.3 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT27 was set to
Retinal disorders v2.3 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT172 was set to
Retinal disorders v2.3 GNB3 Ivone Leong gene: GNB3 was added
gene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: GNB3 was set to
Retinal disorders v2.3 EXOSC2 Ivone Leong gene: EXOSC2 was added
gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: EXOSC2 was set to
Retinal disorders v2.3 ESPN Ivone Leong gene: ESPN was added
gene: ESPN was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ESPN was set to
Retinal disorders v2.3 ELOVL1 Ivone Leong gene: ELOVL1 was added
gene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ELOVL1 was set to
Retinal disorders v2.3 DRAM2 Ivone Leong gene: DRAM2 was added
gene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DRAM2 was set to
Retinal disorders v2.3 DMD Ivone Leong gene: DMD was added
gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DMD was set to
Retinal disorders v2.3 CTNNA1 Ivone Leong gene: CTNNA1 was added
gene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CTNNA1 was set to
Retinal disorders v2.3 CLUAP1 Ivone Leong gene: CLUAP1 was added
gene: CLUAP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLUAP1 was set to
Retinal disorders v2.3 CLCC1 Ivone Leong gene: CLCC1 was added
gene: CLCC1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLCC1 was set to
Retinal disorders v2.3 CEP250 Ivone Leong gene: CEP250 was added
gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP250 was set to
Retinal disorders v2.3 CEP19 Ivone Leong gene: CEP19 was added
gene: CEP19 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP19 was set to
Retinal disorders v2.3 CCT2 Ivone Leong gene: CCT2 was added
gene: CCT2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CCT2 was set to
Retinal disorders v2.3 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: C12orf65 was set to
Retinal disorders v2.3 ATXN7 Ivone Leong gene: ATXN7 was added
gene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ATXN7 was set to
Retinal disorders v2.3 ASRGL1 Ivone Leong gene: ASRGL1 was added
gene: ASRGL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ASRGL1 was set to
Retinal disorders v2.3 ARSG Ivone Leong gene: ARSG was added
gene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARSG was set to
Retinal disorders v2.3 ARL3 Ivone Leong gene: ARL3 was added
gene: ARL3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARL3 was set to
Retinal disorders v2.3 AHR Ivone Leong gene: AHR was added
gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AHR was set to
Retinal disorders v2.3 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to
Retinal disorders v2.3 ADIPOR1 Ivone Leong gene: ADIPOR1 was added
gene: ADIPOR1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ADIPOR1 was set to
Retinal disorders v2.3 ABCC6 Ivone Leong gene: ABCC6 was added
gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ABCC6 was set to
Retinal disorders v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Retinal disorders v2.0 Ivone Leong promoted panel to version 2.0
Retinal disorders v1.228 RDH12 Ivone Leong Added comment: Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes.
Retinal disorders v1.228 RDH12 Ivone Leong Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.227 RDH12 Ivone Leong Publications for gene: RDH12 were set to
Retinal disorders v1.226 NMNAT1 Ivone Leong Publications for gene: NMNAT1 were set to
Retinal disorders v1.225 CSPP1 Ivone Leong Phenotypes for gene: CSPP1 were changed from Genetic Retinal Degeneration Conditions; Joubert syndrome 21 to Genetic Retinal Degeneration Conditions; Joubert syndrome 21,615636
Retinal disorders v1.224 COL18A1 Ivone Leong Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750
Retinal disorders v1.223 CNGA3 Ivone Leong Phenotypes for gene: CNGA3 were changed from Achromatopsia; Achromatopsia-2; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia; Achromatopsia-2, 216900; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
Retinal disorders v1.222 CLRN1 Ivone Leong Phenotypes for gene: CLRN1 were changed from Eye Disorders; ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa to Eye Disorders; ?Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180
Retinal disorders v1.221 CEP290 Ivone Leong Publications for gene: CEP290 were set to
Retinal disorders v1.220 CDHR1 Ivone Leong Phenotypes for gene: CDHR1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660 to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660; Retinitis pigmentosa 65, 613660
Retinal disorders v1.219 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; Eye Disorders to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; Eye Disorders
Retinal disorders v1.218 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 9, 615986
Retinal disorders v1.217 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 7, 615984
Retinal disorders v1.216 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Eye Disorders; Bardet-Biedl syndrome 5 to Eye Disorders; Bardet-Biedl syndrome 5, 615983
Retinal disorders v1.215 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Eye Disorders; Bardet-Biedl syndrome 4 to Eye Disorders; Bardet-Biedl syndrome 4, 615982
Retinal disorders v1.214 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Eye Disorders; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 to Eye Disorders; Bardet-Biedl syndrome 2, 615981; Retinitis pigmentosa 74, 616562
Retinal disorders v1.213 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from Eye Disorders; Bardet-Biedl syndrome 12 to Eye Disorders; Bardet-Biedl syndrome 12, 615989
Retinal disorders v1.212 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa to Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900
Retinal disorders v1.211 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from Eye Disorders; Bardet-Biedl syndrome 10 to Eye Disorders; Bardet-Biedl syndrome 10, 615987
Retinal disorders v1.210 ATOH7 Ivone Leong Phenotypes for gene: ATOH7 were changed from Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus to Persistent hyperplastic primary vitreous, autosomal recessive, 221900; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Retinal disorders v1.209 ATF6 Ivone Leong Phenotypes for gene: ATF6 were changed from Achromatopsia 7 to Achromatopsia 7, 616517
Retinal disorders v1.208 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800
Retinal disorders v1.207 AHI1 Ivone Leong Phenotypes for gene: AHI1 were changed from Eye Disorders; Joubert syndrome 17 to Eye Disorders; Joubert syndrome 3, 608629
Retinal disorders v1.206 AGBL5 Ivone Leong Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa; Retinitis pigmentosa 75 617023 to Retinitis pigmentosa 75, 617023
Retinal disorders v1.205 ADAMTS18 Ivone Leong Phenotypes for gene: ADAMTS18 were changed from Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus to Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Retinal disorders v1.204 ADGRV1 Ivone Leong Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C; Eye Disorders to Usher syndrome, type 2C, 605472; Eye Disorders; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Retinal disorders v1.203 KIZ Ivone Leong Classified gene: KIZ as Green List (high evidence)
Retinal disorders v1.203 KIZ Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Mohammed Abdallah (Divsion of Human Genetics, university of Cape Town). The gene was previously classified as non-coding because of problems with Ensembl grch37 release; however, that has been fixed now and it is an actual gene.
Retinal disorders v1.203 KIZ Ivone Leong Gene: kiz has been classified as Green List (High Evidence).
Retinal disorders v1.202 KIZ Ivone Leong Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, 615780; HP:0000556; HP:0000510
Retinal disorders v1.201 KIZ Ivone Leong Mode of inheritance for gene: KIZ was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.200 KIZ Ivone Leong Publications for gene: KIZ were set to
Retinal disorders v1.199 KIZ Mohammed Abdallah changed review comment from: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, but by consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we could see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.; to: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, However, when consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we can clearly see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.
Retinal disorders v1.199 KIZ Mohammed Abdallah reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID ( 31556760, 29057815, 28837078, 24680887); Phenotypes: Phenotypes (HP:0000556, HP:0000510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.199 IKBKG Catherine Snow Added comment: Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIM
Retinal disorders v1.199 IKBKG Catherine Snow Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.198 IKBKG Catherine Snow Added comment: Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSH
Retinal disorders v1.198 IKBKG Catherine Snow Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Retinal disorders v1.197 IKBKG Catherine Snow Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Retinal disorders v1.196 IKBKG Catherine Snow Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.195 IKBKG Catherine Snow Classified gene: IKBKG as Green List (high evidence)
Retinal disorders v1.195 IKBKG Catherine Snow Gene: ikbkg has been classified as Green List (High Evidence).
Retinal disorders v1.194 IKBKG Catherine Snow reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.194 AIRE Catherine Snow Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300
Retinal disorders v1.193 AIRE Catherine Snow Mode of inheritance for gene: AIRE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.192 AIRE Catherine Snow Classified gene: AIRE as Green List (high evidence)
Retinal disorders v1.192 AIRE Catherine Snow Gene: aire has been classified as Green List (High Evidence).
Retinal disorders v1.191 AIRE Catherine Snow reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.191 TPP1 Catherine Snow Mode of inheritance for gene: TPP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.190 TPP1 Catherine Snow Phenotypes for gene: TPP1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 2, 204500
Retinal disorders v1.189 TPP1 Catherine Snow Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.188 TPP1 Catherine Snow Classified gene: TPP1 as Green List (high evidence)
Retinal disorders v1.188 TPP1 Catherine Snow Gene: tpp1 has been classified as Green List (High Evidence).
Retinal disorders v1.187 TPP1 Catherine Snow reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.187 TIMM8A Catherine Snow Phenotypes for gene: TIMM8A were changed from Eye Disorders to Eye Disorders; Mohr-Tranebjaerg syndrome, 304700
Retinal disorders v1.186 TIMM8A Catherine Snow Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.185 TIMM8A Catherine Snow Classified gene: TIMM8A as Green List (high evidence)
Retinal disorders v1.185 TIMM8A Catherine Snow Gene: timm8a has been classified as Green List (High Evidence).
Retinal disorders v1.184 TIMM8A Catherine Snow reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.184 PPT1 Catherine Snow Phenotypes for gene: PPT1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 1, 256730
Retinal disorders v1.183 PPT1 Catherine Snow Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.182 PPT1 Catherine Snow Classified gene: PPT1 as Green List (high evidence)
Retinal disorders v1.182 PPT1 Catherine Snow Gene: ppt1 has been classified as Green List (High Evidence).
Retinal disorders v1.181 PPT1 Catherine Snow reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.181 HCCS Catherine Snow Phenotypes for gene: HCCS were changed from Eye Disorders to Eye Disorders; Linear skin defects with multiple congenital anomalies 1, 309801
Retinal disorders v1.180 HCCS Catherine Snow Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.179 HCCS Catherine Snow Classified gene: HCCS as Green List (high evidence)
Retinal disorders v1.179 HCCS Catherine Snow Gene: hccs has been classified as Green List (High Evidence).
Retinal disorders v1.178 HCCS Catherine Snow reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.178 CTSD Catherine Snow Phenotypes for gene: CTSD were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 10, 610127
Retinal disorders v1.177 CTSD Catherine Snow Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.176 CTSD Catherine Snow Classified gene: CTSD as Green List (high evidence)
Retinal disorders v1.176 CTSD Catherine Snow Gene: ctsd has been classified as Green List (High Evidence).
Retinal disorders v1.175 COL18A1 Catherine Snow changed review comment from: COL18A1 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: COL18A1 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN5 Catherine Snow changed review comment from: CLN5 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN5 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN6 Catherine Snow changed review comment from: CLN6 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN6 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN8 Catherine Snow changed review comment from: CLN8 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN8 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CTSD Catherine Snow changed review comment from: CTSD rated as Green and with a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CTSD rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CTSD Catherine Snow reviewed gene: CTSD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.175 COL18A1 Catherine Snow Classified gene: COL18A1 as Green List (high evidence)
Retinal disorders v1.175 COL18A1 Catherine Snow Gene: col18a1 has been classified as Green List (High Evidence).
Retinal disorders v1.174 COL18A1 Catherine Snow reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.174 CLN8 Catherine Snow Phenotypes for gene: CLN8 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 8, 600143
Retinal disorders v1.173 CLN8 Catherine Snow Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.172 CLN8 Catherine Snow Classified gene: CLN8 as Green List (high evidence)
Retinal disorders v1.172 CLN8 Catherine Snow Gene: cln8 has been classified as Green List (High Evidence).
Retinal disorders v1.171 CLN8 Catherine Snow reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.171 CLN6 Catherine Snow Phenotypes for gene: CLN6 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 6 601780
Retinal disorders v1.170 CLN6 Catherine Snow Mode of inheritance for gene: CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.169 CLN6 Catherine Snow Classified gene: CLN6 as Green List (high evidence)
Retinal disorders v1.169 CLN6 Catherine Snow Gene: cln6 has been classified as Green List (High Evidence).
Retinal disorders v1.168 CLN6 Catherine Snow reviewed gene: CLN6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.168 CLN5 Catherine Snow Classified gene: CLN5 as Green List (high evidence)
Retinal disorders v1.168 CLN5 Catherine Snow Gene: cln5 has been classified as Green List (High Evidence).
Retinal disorders v1.167 CLN5 Catherine Snow Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.166 CLN5 Catherine Snow Phenotypes for gene: CLN5 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731
Retinal disorders v1.165 CLN5 Catherine Snow reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.165 MVK Ivone Leong Classified gene: MVK as Amber List (moderate evidence)
Retinal disorders v1.165 MVK Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviewer. MVK is not associated with an eye phenotype in OMIM or Gene2Phenotype.
Retinal disorders v1.165 MVK Ivone Leong Gene: mvk has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.164 MVK Ivone Leong Publications for gene: MVK were set to 24084495; 12563048
Retinal disorders v1.163 MVK Ivone Leong Publications for gene: MVK were set to
Retinal disorders v1.162 MVK Ivone Leong Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria to Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP
Retinal disorders v1.161 MVK Tom Cullup reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: Non-syndromic RP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.161 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Retinal disorders v1.161 HARS Louise Daugherty commented on gene: HARS
Retinal disorders v1.161 OPN1MW Ivone Leong Classified gene: OPN1MW as Green List (high evidence)
Retinal disorders v1.161 OPN1MW Ivone Leong Added comment: Comment on list classification: Promoted to green based on expert review by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Retinal disorders v1.161 OPN1MW Ivone Leong Gene: opn1mw has been classified as Green List (High Evidence).
Retinal disorders v1.160 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 NR2F1 Ivone Leong reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 RGR Ivone Leong reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 CA4 Ivone Leong reviewed gene: CA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Ivone Leong reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.159 GNPTAB Simon Ramsden reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIRE Robert Henderson reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IKBKG Robert Henderson reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF513 Gavin Arno reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WT1 Gavin Arno reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WFS1 Gavin Arno reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WASF3 Gavin Arno reviewed gene: WASF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VSX2 Gavin Arno reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VAX1 Gavin Arno reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UNC119 Gavin Arno reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UBAP1L Gavin Arno reviewed gene: UBAP1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYRP1 Gavin Arno reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYR Gavin Arno reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC21B Gavin Arno reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TPP1 Gavin Arno reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM67 Gavin Arno reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM216 Gavin Arno reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM126A Gavin Arno reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMM8A Gavin Arno reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEX28 Gavin Arno reviewed gene: TEX28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEAD1 Gavin Arno reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN3 Gavin Arno reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN2 Gavin Arno reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN1 Gavin Arno reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 STRA6 Gavin Arno reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPG7 Gavin Arno reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SOX2 Gavin Arno reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SMOC1 Gavin Arno reviewed gene: SMOC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC7A14 Gavin Arno reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC45A2 Gavin Arno reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC37A3 Gavin Arno reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A5 Gavin Arno reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ROM1 Gavin Arno reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RIMS1 Gavin Arno reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9BP Gavin Arno reviewed gene: RGS9BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RB1 Gavin Arno reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRTFDC1 Gavin Arno reviewed gene: PRTFDC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PPT1 Gavin Arno reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POMZP3 Gavin Arno reviewed gene: POMZP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PODNL1 Gavin Arno reviewed gene: PODNL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLD4 Gavin Arno reviewed gene: PLD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX3 Gavin Arno reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX2 Gavin Arno reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITPNM3 Gavin Arno reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDZD7 Gavin Arno reviewed gene: PDZD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6H Gavin Arno reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDAP1 Gavin Arno reviewed gene: PDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Gavin Arno reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 P3H2 Gavin Arno reviewed gene: P3H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OR2M7 Gavin Arno reviewed gene: OR2M7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1MW Gavin Arno reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1LW Gavin Arno reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA3 Gavin Arno reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA1 Gavin Arno reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OCA2 Gavin Arno reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NUMB Gavin Arno reviewed gene: NUMB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2F1 Gavin Arno reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NEK2 Gavin Arno reviewed gene: NEK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NAALADL1 Gavin Arno reviewed gene: NAALADL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYOC Gavin Arno reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MVK Gavin Arno reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MTTP Gavin Arno reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-TL1 Gavin Arno reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND6 Gavin Arno reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND4 Gavin Arno reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND1 Gavin Arno reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ATP6 Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFN2 Gavin Arno reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRMDA Gavin Arno reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIZ Gavin Arno reviewed gene: KIZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF7 Gavin Arno reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCTD7 Gavin Arno reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITM2B Gavin Arno reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITIH2 Gavin Arno reviewed gene: ITIH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IRX5 Gavin Arno reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INVS Gavin Arno reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HTRA1 Gavin Arno reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMCN1 Gavin Arno reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HCCS Gavin Arno reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRN Gavin Arno reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRIP1 Gavin Arno reviewed gene: GRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GP1BA Gavin Arno reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GDF6 Gavin Arno reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FUT5 Gavin Arno reviewed gene: FUT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FSCN2 Gavin Arno reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM2 Gavin Arno reviewed gene: FREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM1 Gavin Arno reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FRAS1 Gavin Arno reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXI2 Gavin Arno reviewed gene: FOXI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXE3 Gavin Arno reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXC1 Gavin Arno reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FBLN5 Gavin Arno reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM71A Gavin Arno reviewed gene: FAM71A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM57B Gavin Arno reviewed gene: FAM57B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EMC1 Gavin Arno reviewed gene: EMC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DTHD1 Gavin Arno reviewed gene: DTHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHX38 Gavin Arno reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP27A1 Gavin Arno reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP1B1 Gavin Arno reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CUBN Gavin Arno reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTSD Gavin Arno reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CROCC Gavin Arno reviewed gene: CROCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A2 Gavin Arno reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A1 Gavin Arno reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL2A1 Gavin Arno reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL18A1 Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A2 Gavin Arno reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A1 Gavin Arno reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN8 Gavin Arno reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN6 Gavin Arno reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN5 Gavin Arno reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFB Gavin Arno reviewed gene: CFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP41 Gavin Arno reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CCZ1B Gavin Arno reviewed gene: CCZ1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C5orf42 Gavin Arno reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C3 Gavin Arno reviewed gene: C3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2 Gavin Arno reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BMP4 Gavin Arno reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BCOR Gavin Arno reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBIP1 Gavin Arno reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 B3GLCT Gavin Arno reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATP13A2 Gavin Arno reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARMS2 Gavin Arno reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL13B Gavin Arno reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AMN Gavin Arno reviewed gene: AMN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRA3 Gavin Arno reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACBD5 Gavin Arno reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HK1 Gavin Arno reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP2R1 Gavin Arno reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SEMA4A Gavin Arno commented on gene: SEMA4A: p.Arg713Gln is too common to cause adCORD. The other missense vriants reported in the paper are rare, although the gene has never been convincingly validated - remove?
Retinal disorders v1.159 RP1L1 Gavin Arno reviewed gene: RP1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 RGR Gavin Arno reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABCA4 Gavin Arno reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 CA4 Gavin Arno reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SRD5A3 Robert Henderson reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CWC27 Simon Ramsden reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTLL5 Gavin Arno reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RCBTB1 Gavin Arno reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POC1B Gavin Arno reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFSD8 Gavin Arno reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP2 Gavin Arno reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIAA1549 Gavin Arno reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA2D4 Gavin Arno reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFH Gavin Arno reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF423 Gavin Arno reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF408 Gavin Arno reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDR19 Gavin Arno reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDPCP Gavin Arno reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VPS13B Gavin Arno reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VCAN Gavin Arno reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH2A Gavin Arno reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1G Gavin Arno reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1C Gavin Arno reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TULP1 Gavin Arno reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TUB Gavin Arno reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC8 Gavin Arno reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TSPAN12 Gavin Arno reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRPM1 Gavin Arno reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRIM32 Gavin Arno reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TOPORS Gavin Arno reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM237 Gavin Arno reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMP3 Gavin Arno reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPATA7 Gavin Arno reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SNRNP200 Gavin Arno reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC38A8 Gavin Arno reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A1 Gavin Arno reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SDCCAG8 Gavin Arno reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SCAPER Gavin Arno reviewed gene: SCAPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SAG Gavin Arno reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RS1 Gavin Arno reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1L Gavin Arno reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1 Gavin Arno reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGR Gavin Arno reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPE65 Gavin Arno reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP9 Gavin Arno reviewed gene: RP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP2 Gavin Arno reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP1 Gavin Arno reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RLBP1 Gavin Arno reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RHO Gavin Arno reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9 Gavin Arno reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH5 Gavin Arno reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH12 Gavin Arno reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RD3 Gavin Arno reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP4 Gavin Arno reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP3 Gavin Arno reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAX2 Gavin Arno reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAB28 Gavin Arno reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPS1 Gavin Arno reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPH2 Gavin Arno reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF8 Gavin Arno reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF6 Gavin Arno reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF4 Gavin Arno reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF31 Gavin Arno reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF3 Gavin Arno reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PROM1 Gavin Arno reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRCD Gavin Arno reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLA2G5 Gavin Arno reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PHYH Gavin Arno reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX7 Gavin Arno reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX2 Gavin Arno reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX1 Gavin Arno reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6G Gavin Arno reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6C Gavin Arno reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6B Gavin Arno reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6A Gavin Arno reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCYT1A Gavin Arno reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCDH15 Gavin Arno reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PANK2 Gavin Arno reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OTX2 Gavin Arno reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OFD1 Gavin Arno reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OAT Gavin Arno reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NYX Gavin Arno reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NRL Gavin Arno reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2E3 Gavin Arno reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP4 Gavin Arno reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP3 Gavin Arno reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP1 Gavin Arno reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NMNAT1 Gavin Arno reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NDP Gavin Arno reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYO7A Gavin Arno reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKS1 Gavin Arno reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKKS Gavin Arno reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFRP Gavin Arno reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MERTK Gavin Arno reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MAK Gavin Arno reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LZTFL1 Gavin Arno reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP5 Gavin Arno reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRIT3 Gavin Arno reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRAT Gavin Arno reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LCA5 Gavin Arno reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KLHL7 Gavin Arno reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF11 Gavin Arno reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNV2 Gavin Arno reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNJ13 Gavin Arno reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IQCB1 Gavin Arno reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INPP5E Gavin Arno reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG2 Gavin Arno reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG1 Gavin Arno reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPDH1 Gavin Arno reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IFT140 Gavin Arno reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IDH3B Gavin Arno reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMX1 Gavin Arno reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HGSNAT Gavin Arno reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HARS Gavin Arno reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCY2D Gavin Arno reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1B Gavin Arno reviewed gene: GUCA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1A Gavin Arno reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRM6 Gavin Arno reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRK1 Gavin Arno reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR179 Gavin Arno reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR143 Gavin Arno reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNPTG Gavin Arno reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT2 Gavin Arno reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT1 Gavin Arno reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FZD4 Gavin Arno reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FLVCR1 Gavin Arno reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM161A Gavin Arno reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EYS Gavin Arno reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC8 Gavin Arno reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC6 Gavin Arno reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ELOVL4 Gavin Arno reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EFEMP1 Gavin Arno reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHDDS Gavin Arno reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP4V2 Gavin Arno reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTNNB1 Gavin Arno reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CSPP1 Gavin Arno reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRX Gavin Arno reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRB1 Gavin Arno reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL4A1 Gavin Arno reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNNM4 Gavin Arno reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB3 Gavin Arno reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB1 Gavin Arno reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA3 Gavin Arno reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA1 Gavin Arno reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLRN1 Gavin Arno reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN3 Gavin Arno reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CIB2 Gavin Arno reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CHM Gavin Arno reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CERKL Gavin Arno reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP78 Gavin Arno reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP290 Gavin Arno reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP164 Gavin Arno reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDHR1 Gavin Arno reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH3 Gavin Arno reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH23 Gavin Arno reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CC2D2A Gavin Arno reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CAPN5 Gavin Arno reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA1F Gavin Arno reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CABP4 Gavin Arno reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C8orf37 Gavin Arno reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2orf71 Gavin Arno reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C21orf2 Gavin Arno reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C1QTNF5 Gavin Arno reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BEST1 Gavin Arno reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS9 Gavin Arno reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS7 Gavin Arno reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS5 Gavin Arno reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS4 Gavin Arno reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS2 Gavin Arno reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS12 Gavin Arno reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS10 Gavin Arno reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS1 Gavin Arno reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATOH7 Gavin Arno reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATF6 Gavin Arno reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL6 Gavin Arno reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL2BP Gavin Arno reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARHGEF18 Gavin Arno reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ALMS1 Gavin Arno reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIPL1 Gavin Arno reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AHI1 Gavin Arno reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AGBL5 Gavin Arno reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRV1 Gavin Arno reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAMTS18 Gavin Arno reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAM9 Gavin Arno reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACO2 Gavin Arno reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABHD12 Gavin Arno reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WHRN Gavin Arno reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.158 GNPTAB Ivone Leong gene: GNPTAB was added
gene: GNPTAB was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: GNPTAB was set to
Retinal disorders v1.158 AIRE Ivone Leong gene: AIRE was added
gene: AIRE was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: AIRE was set to
Retinal disorders v1.158 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: IKBKG was set to
Retinal disorders v1.158 SEMA4A Ivone Leong Source Expert Review Amber was added to SEMA4A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 RGR Ivone Leong Source Expert Review Amber was added to RGR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 CA4 Ivone Leong Source Expert Review Amber was added to CA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.157 RP1L1 Ivone Leong Added comment: Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.
Retinal disorders v1.157 RP1L1 Ivone Leong Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.156 OPN1MW Ivone Leong Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.155 OPN1MW Ivone Leong Mode of inheritance for gene: OPN1MW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.154 OPN1LW Ivone Leong Publications for gene: OPN1LW were set to
Retinal disorders v1.153 OPN1LW Ivone Leong Classified gene: OPN1LW as Green List (high evidence)
Retinal disorders v1.153 OPN1LW Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases reported on OMIM; therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.153 OPN1LW Ivone Leong Gene: opn1lw has been classified as Green List (High Evidence).
Retinal disorders v1.152 OPN1LW Ivone Leong Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.151 OPN1LW Ivone Leong Mode of inheritance for gene: OPN1LW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.150 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.149 PDE6H Ivone Leong edited their review of gene: PDE6H: Added comment: PMID: 22901948 reported on 3 patients from 2 unrelated families (Dutch and Belgium) who have incomplete achromatopsia who also have the same variant in PDE6H (missense variant the causes a premature termination). Haplotype analysis for this region suggested that the variant may be from a founder effect.

PMID: 25739440 reported on a Pde6h knockout mouse model. However, the model failed to replicate the human phenotype as it appears that the mouse showed normal retinal tissue. The authors suggest "species-to-species differences in the vulnerability of biochemical and neurosensory pathways of the visual signal transduction system".

Taken together with my previous review, there is still currently not enough evidence to promote this gene to green status.; Changed rating: AMBER; Changed publications: 22901948, 25739440; Changed phenotypes: Achromatopsia 6, 610024
Retinal disorders v1.149 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v1.149 REEP6 Ivone Leong Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP.

This gene has been given green status based on the evidence provided by the reviewer.
Retinal disorders v1.149 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Retinal disorders v1.148 IDH3A Ivone Leong Classified gene: IDH3A as Green List (high evidence)
Retinal disorders v1.148 IDH3A Ivone Leong Gene: idh3a has been classified as Green List (High Evidence).
Retinal disorders v1.147 IDH3A Ivone Leong gene: IDH3A was added
gene: IDH3A was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 30478029
Phenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma
Review for gene: IDH3A was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status.
Sources: Expert list
Retinal disorders v1.146 Ivone Leong List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
Retinal disorders v1.145 CEP290 Tom Cullup reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604; Phenotypes: LEBER CONGENITAL AMAUROSIS 10, LCA10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v1.145 REEP6 Ivone Leong Phenotypes for gene: REEP6 were changed from retinitis pigmentosa to retinitis pigmentosa; Retinitis pigmentosa 77, 617304
Retinal disorders v1.144 REEP6 Ivone Leong Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551
Retinal disorders v1.143 CFH Ivone Leong Classified gene: CFH as Green List (high evidence)
Retinal disorders v1.143 CFH Ivone Leong Added comment: Comment on list classification: Promoted from red to green. CFH is associated with Basal laminar drusen (OMIM:126700) in OMIM but not in Gene2Phenotype. There are >3 unrelated cases in OMIM and therefore there is enough evidence to promote this gene to green status.
Retinal disorders v1.143 CFH Ivone Leong Gene: cfh has been classified as Green List (High Evidence).
Retinal disorders v1.142 CFH Ivone Leong Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698 to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700
Retinal disorders v1.140 ABCA4 Ivone Leong Added comment: Comment on mode of inheritance: Changed from both monoallelic and biallelic to just biallelic as adviced by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital). ABCA4 is a susceptibility factor rather than a monogenic cause of macular degeneration; therefore, the monoallelic MOI was removed.
Retinal disorders v1.140 ABCA4 Ivone Leong Mode of inheritance for gene: ABCA4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.139 REEP6 Andrew Webster gene: REEP6 was added
gene: REEP6 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551
Phenotypes for gene: REEP6 were set to retinitis pigmentosa
Penetrance for gene: REEP6 were set to Complete
Review for gene: REEP6 was set to GREEN
Added comment: Sources: Literature
Retinal disorders v1.139 FAM57B Louise Daugherty Deleted their comment
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty Tag new-gene-name tag was added to gene: FAM57B.
Retinal disorders v1.139 MFSD8 Ivone Leong Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.138 KIAA1549 Ivone Leong Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.137 CWC27 Ivone Leong reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 SRD5A3 Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 CWC27 Ivone Leong gene: CWC27 was added
gene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinal disorders v1.137 SRD5A3 Ivone Leong gene: SRD5A3 was added
gene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 28253385; 30019980; 24433453
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Retinal disorders v1.137 ZNF513 Ivone Leong Source NHS GMS was added to ZNF513.
Retinal disorders v1.137 WT1 Ivone Leong Source NHS GMS was added to WT1.
Retinal disorders v1.137 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Retinal disorders v1.137 WASF3 Ivone Leong Source NHS GMS was added to WASF3.
Retinal disorders v1.137 VSX2 Ivone Leong Source NHS GMS was added to VSX2.
Retinal disorders v1.137 VAX1 Ivone Leong Source NHS GMS was added to VAX1.
Retinal disorders v1.137 UNC119 Ivone Leong Source NHS GMS was added to UNC119.
Retinal disorders v1.137 UBAP1L Ivone Leong Source NHS GMS was added to UBAP1L.
Retinal disorders v1.137 TYRP1 Ivone Leong Source NHS GMS was added to TYRP1.
Retinal disorders v1.137 TYR Ivone Leong Source NHS GMS was added to TYR.
Retinal disorders v1.137 TTLL5 Ivone Leong Source NHS GMS was added to TTLL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Retinal disorders v1.137 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Retinal disorders v1.137 TMEM67 Ivone Leong Source NHS GMS was added to TMEM67.
Retinal disorders v1.137 TMEM216 Ivone Leong Source NHS GMS was added to TMEM216.
Retinal disorders v1.137 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Retinal disorders v1.137 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Retinal disorders v1.137 TEX28 Ivone Leong Source NHS GMS was added to TEX28.
Retinal disorders v1.137 TEAD1 Ivone Leong Source NHS GMS was added to TEAD1.
Retinal disorders v1.137 TCTN3 Ivone Leong Source NHS GMS was added to TCTN3.
Retinal disorders v1.137 TCTN2 Ivone Leong Source NHS GMS was added to TCTN2.
Retinal disorders v1.137 TCTN1 Ivone Leong Source NHS GMS was added to TCTN1.
Retinal disorders v1.137 STRA6 Ivone Leong Source NHS GMS was added to STRA6.
Retinal disorders v1.137 SPG7 Ivone Leong Source NHS GMS was added to SPG7.
Retinal disorders v1.137 SOX2 Ivone Leong Source NHS GMS was added to SOX2.
Retinal disorders v1.137 SMOC1 Ivone Leong Source NHS GMS was added to SMOC1.
Retinal disorders v1.137 SLC7A14 Ivone Leong Source NHS GMS was added to SLC7A14.
Retinal disorders v1.137 SLC45A2 Ivone Leong Source NHS GMS was added to SLC45A2.
Retinal disorders v1.137 SLC37A3 Ivone Leong Source NHS GMS was added to SLC37A3.
Retinal disorders v1.137 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Retinal disorders v1.137 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Retinal disorders v1.137 RIMS1 Ivone Leong Source NHS GMS was added to RIMS1.
Retinal disorders v1.137 RGS9BP Ivone Leong Source NHS GMS was added to RGS9BP.
Retinal disorders v1.137 RCBTB1 Ivone Leong Source NHS GMS was added to RCBTB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RB1 Ivone Leong Source NHS GMS was added to RB1.
Retinal disorders v1.137 PRTFDC1 Ivone Leong Source NHS GMS was added to PRTFDC1.
Retinal disorders v1.137 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Retinal disorders v1.137 POMZP3 Ivone Leong Source NHS GMS was added to POMZP3.
Retinal disorders v1.137 PODNL1 Ivone Leong Source NHS GMS was added to PODNL1.
Retinal disorders v1.137 POC1B Ivone Leong Source NHS GMS was added to POC1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLD4 Ivone Leong Source NHS GMS was added to PLD4.
Retinal disorders v1.137 PITX3 Ivone Leong Source NHS GMS was added to PITX3.
Retinal disorders v1.137 PITX2 Ivone Leong Source NHS GMS was added to PITX2.
Retinal disorders v1.137 PITPNM3 Ivone Leong Source NHS GMS was added to PITPNM3.
Retinal disorders v1.137 PDZD7 Ivone Leong Source NHS GMS was added to PDZD7.
Retinal disorders v1.137 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Retinal disorders v1.137 PDAP1 Ivone Leong Source NHS GMS was added to PDAP1.
Retinal disorders v1.137 PAX6 Ivone Leong Source NHS GMS was added to PAX6.
Retinal disorders v1.137 P3H2 Ivone Leong Source NHS GMS was added to P3H2.
Retinal disorders v1.137 OR2M7 Ivone Leong Source NHS GMS was added to OR2M7.
Retinal disorders v1.137 OPN1MW Ivone Leong Source NHS GMS was added to OPN1MW.
Retinal disorders v1.137 OPN1LW Ivone Leong Source NHS GMS was added to OPN1LW.
Retinal disorders v1.137 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Retinal disorders v1.137 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Retinal disorders v1.137 OCA2 Ivone Leong Source NHS GMS was added to OCA2.
Retinal disorders v1.137 NUMB Ivone Leong Source NHS GMS was added to NUMB.
Retinal disorders v1.137 NR2F1 Ivone Leong Source NHS GMS was added to NR2F1.
Retinal disorders v1.137 NEK2 Ivone Leong Source NHS GMS was added to NEK2.
Retinal disorders v1.137 NAALADL1 Ivone Leong Source NHS GMS was added to NAALADL1.
Retinal disorders v1.137 MYOC Ivone Leong Source NHS GMS was added to MYOC.
Retinal disorders v1.137 MVK Ivone Leong Source NHS GMS was added to MVK.
Retinal disorders v1.137 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Retinal disorders v1.137 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Retinal disorders v1.137 MT-ND6 Ivone Leong Source NHS GMS was added to MT-ND6.
Retinal disorders v1.137 MT-ND4 Ivone Leong Source NHS GMS was added to MT-ND4.
Retinal disorders v1.137 MT-ND1 Ivone Leong Source NHS GMS was added to MT-ND1.
Retinal disorders v1.137 MT-ATP6 Ivone Leong Source NHS GMS was added to MT-ATP6.
Retinal disorders v1.137 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Retinal disorders v1.137 LRP2 Ivone Leong Source NHS GMS was added to LRP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRMDA Ivone Leong Source NHS GMS was added to LRMDA.
Retinal disorders v1.137 KIZ Ivone Leong Source NHS GMS was added to KIZ.
Retinal disorders v1.137 KIF7 Ivone Leong Source NHS GMS was added to KIF7.
Retinal disorders v1.137 KIAA1549 Ivone Leong Source NHS GMS was added to KIAA1549.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCTD7 Ivone Leong Source NHS GMS was added to KCTD7.
Retinal disorders v1.137 ITM2B Ivone Leong Source NHS GMS was added to ITM2B.
Retinal disorders v1.137 ITIH2 Ivone Leong Source NHS GMS was added to ITIH2.
Retinal disorders v1.137 IRX5 Ivone Leong Source NHS GMS was added to IRX5.
Retinal disorders v1.137 INVS Ivone Leong Source NHS GMS was added to INVS.
Retinal disorders v1.137 HTRA1 Ivone Leong Source NHS GMS was added to HTRA1.
Retinal disorders v1.137 HMCN1 Ivone Leong Source NHS GMS was added to HMCN1.
Retinal disorders v1.137 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Retinal disorders v1.137 GRN Ivone Leong Source NHS GMS was added to GRN.
Retinal disorders v1.137 GRIP1 Ivone Leong Source NHS GMS was added to GRIP1.
Retinal disorders v1.137 GP1BA Ivone Leong Source NHS GMS was added to GP1BA.
Retinal disorders v1.137 GDF6 Ivone Leong Source NHS GMS was added to GDF6.
Retinal disorders v1.137 FUT5 Ivone Leong Source NHS GMS was added to FUT5.
Retinal disorders v1.137 FSCN2 Ivone Leong Source NHS GMS was added to FSCN2.
Retinal disorders v1.137 FREM2 Ivone Leong Source NHS GMS was added to FREM2.
Retinal disorders v1.137 FREM1 Ivone Leong Source NHS GMS was added to FREM1.
Retinal disorders v1.137 FRAS1 Ivone Leong Source NHS GMS was added to FRAS1.
Retinal disorders v1.137 FOXI2 Ivone Leong Source NHS GMS was added to FOXI2.
Retinal disorders v1.137 FOXE3 Ivone Leong Source NHS GMS was added to FOXE3.
Retinal disorders v1.137 FOXC1 Ivone Leong Source NHS GMS was added to FOXC1.
Retinal disorders v1.137 FBLN5 Ivone Leong Source NHS GMS was added to FBLN5.
Retinal disorders v1.137 FAM71A Ivone Leong Source NHS GMS was added to FAM71A.
Retinal disorders v1.137 FAM57B Ivone Leong Source NHS GMS was added to FAM57B.
Retinal disorders v1.137 EMC1 Ivone Leong Source NHS GMS was added to EMC1.
Retinal disorders v1.137 DTHD1 Ivone Leong Source NHS GMS was added to DTHD1.
Retinal disorders v1.137 DHX38 Ivone Leong Source NHS GMS was added to DHX38.
Retinal disorders v1.137 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Retinal disorders v1.137 CYP1B1 Ivone Leong Source NHS GMS was added to CYP1B1.
Retinal disorders v1.137 CUBN Ivone Leong Source NHS GMS was added to CUBN.
Retinal disorders v1.137 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Retinal disorders v1.137 CROCC Ivone Leong Source NHS GMS was added to CROCC.
Retinal disorders v1.137 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Retinal disorders v1.137 COL9A1 Ivone Leong Source NHS GMS was added to COL9A1.
Retinal disorders v1.137 COL2A1 Ivone Leong Source NHS GMS was added to COL2A1.
Retinal disorders v1.137 COL18A1 Ivone Leong Source NHS GMS was added to COL18A1.
Retinal disorders v1.137 COL11A2 Ivone Leong Source NHS GMS was added to COL11A2.
Retinal disorders v1.137 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.
Retinal disorders v1.137 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Retinal disorders v1.137 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Retinal disorders v1.137 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Retinal disorders v1.137 CFH Ivone Leong Source NHS GMS was added to CFH.
Retinal disorders v1.137 CFB Ivone Leong Source NHS GMS was added to CFB.
Retinal disorders v1.137 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Retinal disorders v1.137 CCZ1B Ivone Leong Source NHS GMS was added to CCZ1B.
Retinal disorders v1.137 CACNA2D4 Ivone Leong Source NHS GMS was added to CACNA2D4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C5orf42 Ivone Leong Source NHS GMS was added to C5orf42.
Retinal disorders v1.137 C3 Ivone Leong Source NHS GMS was added to C3.
Retinal disorders v1.137 C2 Ivone Leong Source NHS GMS was added to C2.
Retinal disorders v1.137 BMP4 Ivone Leong Source NHS GMS was added to BMP4.
Retinal disorders v1.137 BCOR Ivone Leong Source NHS GMS was added to BCOR.
Retinal disorders v1.137 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.
Retinal disorders v1.137 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Retinal disorders v1.137 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Retinal disorders v1.137 ARMS2 Ivone Leong Source NHS GMS was added to ARMS2.
Retinal disorders v1.137 ARL13B Ivone Leong Source NHS GMS was added to ARL13B.
Retinal disorders v1.137 AMN Ivone Leong Source NHS GMS was added to AMN.
Retinal disorders v1.137 ADGRA3 Ivone Leong Source NHS GMS was added to ADGRA3.
Retinal disorders v1.137 ACBD5 Ivone Leong Source NHS GMS was added to ACBD5.
Retinal disorders v1.137 HK1 Ivone Leong Source NHS GMS was added to HK1.
Retinal disorders v1.137 CYP2R1 Ivone Leong Source NHS GMS was added to CYP2R1.
Retinal disorders v1.137 ZNF423 Ivone Leong Source NHS GMS was added to ZNF423.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ZNF408 Ivone Leong Source NHS GMS was added to ZNF408.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDR19 Ivone Leong Source NHS GMS was added to WDR19.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VPS13B Ivone Leong Source NHS GMS was added to VPS13B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VCAN Ivone Leong Source NHS GMS was added to VCAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH2A Ivone Leong Source NHS GMS was added to USH2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1G Ivone Leong Source NHS GMS was added to USH1G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1C Ivone Leong Source NHS GMS was added to USH1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TULP1 Ivone Leong Source NHS GMS was added to TULP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TUB Ivone Leong Source NHS GMS was added to TUB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TSPAN12 Ivone Leong Source NHS GMS was added to TSPAN12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRPM1 Ivone Leong Source NHS GMS was added to TRPM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TOPORS Ivone Leong Source NHS GMS was added to TOPORS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TMEM237 Ivone Leong Source NHS GMS was added to TMEM237.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TIMP3 Ivone Leong Source NHS GMS was added to TIMP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SPATA7 Ivone Leong Source NHS GMS was added to SPATA7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SNRNP200 Ivone Leong Source NHS GMS was added to SNRNP200.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC38A8 Ivone Leong Source NHS GMS was added to SLC38A8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SEMA4A Ivone Leong Source NHS GMS was added to SEMA4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SCAPER Ivone Leong Source NHS GMS was added to SCAPER.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SAG Ivone Leong Source NHS GMS was added to SAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RS1 Ivone Leong Source NHS GMS was added to RS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1 Ivone Leong Source NHS GMS was added to RPGRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGR Ivone Leong Source NHS GMS was added to RPGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP9 Ivone Leong Source NHS GMS was added to RP9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP2 Ivone Leong Source NHS GMS was added to RP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1L1 Ivone Leong Source NHS GMS was added to RP1L1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1 Ivone Leong Source NHS GMS was added to RP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RHO Ivone Leong Source NHS GMS was added to RHO.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGS9 Ivone Leong Source NHS GMS was added to RGS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGR Ivone Leong Source NHS GMS was added to RGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH5 Ivone Leong Source NHS GMS was added to RDH5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH12 Ivone Leong Source NHS GMS was added to RDH12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RD3 Ivone Leong Source NHS GMS was added to RD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP3 Ivone Leong Source NHS GMS was added to RBP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAX2 Ivone Leong Source NHS GMS was added to RAX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAB28 Ivone Leong Source NHS GMS was added to RAB28.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPS1 Ivone Leong Source NHS GMS was added to PRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPH2 Ivone Leong Source NHS GMS was added to PRPH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF8 Ivone Leong Source NHS GMS was added to PRPF8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF6 Ivone Leong Source NHS GMS was added to PRPF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF4 Ivone Leong Source NHS GMS was added to PRPF4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF31 Ivone Leong Source NHS GMS was added to PRPF31.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF3 Ivone Leong Source NHS GMS was added to PRPF3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRCD Ivone Leong Source NHS GMS was added to PRCD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLA2G5 Ivone Leong Source NHS GMS was added to PLA2G5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX2 Ivone Leong Source NHS GMS was added to PEX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX1 Ivone Leong Source NHS GMS was added to PEX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6G Ivone Leong Source NHS GMS was added to PDE6G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6C Ivone Leong Source NHS GMS was added to PDE6C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6B Ivone Leong Source NHS GMS was added to PDE6B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6A Ivone Leong Source NHS GMS was added to PDE6A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCYT1A Ivone Leong Source NHS GMS was added to PCYT1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCDH15 Ivone Leong Source NHS GMS was added to PCDH15.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PANK2 Ivone Leong Source NHS GMS was added to PANK2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OTX2 Ivone Leong Source NHS GMS was added to OTX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OFD1 Ivone Leong Source NHS GMS was added to OFD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OAT Ivone Leong Source NHS GMS was added to OAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NYX Ivone Leong Source NHS GMS was added to NYX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NRL Ivone Leong Source NHS GMS was added to NRL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NR2E3 Ivone Leong Source NHS GMS was added to NR2E3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP4 Ivone Leong Source NHS GMS was added to NPHP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP3 Ivone Leong Source NHS GMS was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP1 Ivone Leong Source NHS GMS was added to NPHP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NMNAT1 Ivone Leong Source NHS GMS was added to NMNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NDP Ivone Leong Source NHS GMS was added to NDP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MYO7A Ivone Leong Source NHS GMS was added to MYO7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFRP Ivone Leong Source NHS GMS was added to MFRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MERTK Ivone Leong Source NHS GMS was added to MERTK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MAK Ivone Leong Source NHS GMS was added to MAK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRIT3 Ivone Leong Source NHS GMS was added to LRIT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRAT Ivone Leong Source NHS GMS was added to LRAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LCA5 Ivone Leong Source NHS GMS was added to LCA5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KLHL7 Ivone Leong Source NHS GMS was added to KLHL7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KIF11 Ivone Leong Source NHS GMS was added to KIF11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNV2 Ivone Leong Source NHS GMS was added to KCNV2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNJ13 Ivone Leong Source NHS GMS was added to KCNJ13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IQCB1 Ivone Leong Source NHS GMS was added to IQCB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 INPP5E Ivone Leong Source NHS GMS was added to INPP5E.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG2 Ivone Leong Source NHS GMS was added to IMPG2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG1 Ivone Leong Source NHS GMS was added to IMPG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPDH1 Ivone Leong Source NHS GMS was added to IMPDH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IFT140 Ivone Leong Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IDH3B Ivone Leong Source NHS GMS was added to IDH3B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HMX1 Ivone Leong Source NHS GMS was added to HMX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HARS Ivone Leong Source NHS GMS was added to HARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCY2D Ivone Leong Source NHS GMS was added to GUCY2D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1B Ivone Leong Source NHS GMS was added to GUCA1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1A Ivone Leong Source NHS GMS was added to GUCA1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRM6 Ivone Leong Source NHS GMS was added to GRM6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRK1 Ivone Leong Source NHS GMS was added to GRK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR179 Ivone Leong Source NHS GMS was added to GPR179.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR143 Ivone Leong Source NHS GMS was added to GPR143.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT2 Ivone Leong Source NHS GMS was added to GNAT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT1 Ivone Leong Source NHS GMS was added to GNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FZD4 Ivone Leong Source NHS GMS was added to FZD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FLVCR1 Ivone Leong Source NHS GMS was added to FLVCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FAM161A Ivone Leong Source NHS GMS was added to FAM161A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EYS Ivone Leong Source NHS GMS was added to EYS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC8 Ivone Leong Source NHS GMS was added to ERCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC6 Ivone Leong Source NHS GMS was added to ERCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ELOVL4 Ivone Leong Source NHS GMS was added to ELOVL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EFEMP1 Ivone Leong Source NHS GMS was added to EFEMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CYP4V2 Ivone Leong Source NHS GMS was added to CYP4V2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CTNNB1 Ivone Leong Source NHS GMS was added to CTNNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CSPP1 Ivone Leong Source NHS GMS was added to CSPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRX Ivone Leong Source NHS GMS was added to CRX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRB1 Ivone Leong Source NHS GMS was added to CRB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 COL4A1 Ivone Leong Source NHS GMS was added to COL4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNNM4 Ivone Leong Source NHS GMS was added to CNNM4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB3 Ivone Leong Source NHS GMS was added to CNGB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB1 Ivone Leong Source NHS GMS was added to CNGB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA3 Ivone Leong Source NHS GMS was added to CNGA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA1 Ivone Leong Source NHS GMS was added to CNGA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLRN1 Ivone Leong Source NHS GMS was added to CLRN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CIB2 Ivone Leong Source NHS GMS was added to CIB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CHM Ivone Leong Source NHS GMS was added to CHM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CERKL Ivone Leong Source NHS GMS was added to CERKL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP78 Ivone Leong Source NHS GMS was added to CEP78.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP290 Ivone Leong Source NHS GMS was added to CEP290.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP164 Ivone Leong Source NHS GMS was added to CEP164.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDHR1 Ivone Leong Source NHS GMS was added to CDHR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH3 Ivone Leong Source NHS GMS was added to CDH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH23 Ivone Leong Source NHS GMS was added to CDH23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CAPN5 Ivone Leong Source NHS GMS was added to CAPN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CACNA1F Ivone Leong Source NHS GMS was added to CACNA1F.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CABP4 Ivone Leong Source NHS GMS was added to CABP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CA4 Ivone Leong Source NHS GMS was added to CA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C21orf2 Ivone Leong Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C1QTNF5 Ivone Leong Source NHS GMS was added to C1QTNF5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BEST1 Ivone Leong Source NHS GMS was added to BEST1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATOH7 Ivone Leong Source NHS GMS was added to ATOH7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATF6 Ivone Leong Source NHS GMS was added to ATF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL2BP Ivone Leong Source NHS GMS was added to ARL2BP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARHGEF18 Ivone Leong Source NHS GMS was added to ARHGEF18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ALMS1 Ivone Leong Source NHS GMS was added to ALMS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AIPL1 Ivone Leong Source NHS GMS was added to AIPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AGBL5 Ivone Leong Source NHS GMS was added to AGBL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADGRV1 Ivone Leong Source NHS GMS was added to ADGRV1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAMTS18 Ivone Leong Source NHS GMS was added to ADAMTS18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAM9 Ivone Leong Source NHS GMS was added to ADAM9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ACO2 Ivone Leong Source NHS GMS was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABCA4 Ivone Leong Source NHS GMS was added to ABCA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WHRN Ivone Leong Source NHS GMS was added to WHRN.
Retinal disorders v1.136 SLC37A3 Ivone Leong Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.135 SLC37A3 Ivone Leong Classified gene: SLC37A3 as Amber List (moderate evidence)
Retinal disorders v1.135 SLC37A3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. There is only one case (PMID: 28041643), therefore, there is currently not enough evidence to promote this gene to green status.
Retinal disorders v1.135 SLC37A3 Ivone Leong Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.134 SLC37A3 Ivone Leong Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry
Retinal disorders v1.133 PDE6H Ivone Leong Classified gene: PDE6H as Amber List (moderate evidence)
Retinal disorders v1.133 PDE6H Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. PDE6H is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. There is currently only 1 case reporting on 2 siblings with retinal cone dystrophy who has a variant in PDE6H (PMID: 15629837). Therefore, there is currently not enough evidence to support promoting this gene to a green status.
Retinal disorders v1.133 PDE6H Ivone Leong Gene: pde6h has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.132 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837; 22901948
Retinal disorders v1.131 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.130 PDE6H Ivone Leong Publications for gene: PDE6H were set to
Retinal disorders v1.129 MFSD8 Ivone Leong Classified gene: MFSD8 as Green List (high evidence)
Retinal disorders v1.129 MFSD8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.129 MFSD8 Ivone Leong Gene: mfsd8 has been classified as Green List (High Evidence).
Retinal disorders v1.128 MFSD8 Ivone Leong Publications for gene: MFSD8 were set to
Retinal disorders v1.127 LRP2 Ivone Leong Classified gene: LRP2 as Green List (high evidence)
Retinal disorders v1.127 LRP2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. LRP2 is associated with a Donnai-Barrow syndrome in OMIM and Gene2Phenotype. Retinal dystrophy is listed as one of the phenotypes in Gene2Phenotype for this gene. There are also >3 unrelated cases of patients with Donnai-Barrow syndrome. Therefore, there is sufficient evidence to promote this gene to green status.
Retinal disorders v1.127 LRP2 Ivone Leong Gene: lrp2 has been classified as Green List (High Evidence).
Retinal disorders v1.126 LRP2 Ivone Leong Publications for gene: LRP2 were set to
Retinal disorders v1.125 TTLL5 Ivone Leong Classified gene: TTLL5 as Green List (high evidence)
Retinal disorders v1.125 TTLL5 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases of patients with retinal dystrophy who have different variants in this gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.125 TTLL5 Ivone Leong Gene: ttll5 has been classified as Green List (High Evidence).
Retinal disorders v1.124 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to 24791901
Retinal disorders v1.123 TTLL5 Ivone Leong Mode of inheritance for gene: TTLL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.122 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to
Retinal disorders v1.121 RCBTB1 Ivone Leong Classified gene: RCBTB1 as Green List (high evidence)
Retinal disorders v1.121 RCBTB1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.
PMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.
PMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.121 RCBTB1 Ivone Leong Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinal disorders v1.120 RCBTB1 Ivone Leong Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.119 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to 26908610
Retinal disorders v1.118 RCBTB1 Ivone Leong Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175
Retinal disorders v1.117 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to PMID: 26908610
Retinal disorders v1.116 POC1B Ivone Leong Classified gene: POC1B as Green List (high evidence)
Retinal disorders v1.116 POC1B Ivone Leong Added comment: Comment on list classification: Promoted from red to green. POC1B is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with cone-rod dystrophy who have variants in POC1B gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.116 POC1B Ivone Leong Gene: poc1b has been classified as Green List (High Evidence).
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.114 POC1B Ivone Leong Mode of inheritance for gene: POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.113 PDE6H Ivone Leong Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy; Achromatopsia 6; Retinal cone dystrophy 3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
Retinal disorders v1.112 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome 222448
Retinal disorders v1.111 KIAA1549 Ivone Leong Classified gene: KIAA1549 as Green List (high evidence)
Retinal disorders v1.111 KIAA1549 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.111 KIAA1549 Ivone Leong Gene: kiaa1549 has been classified as Green List (High Evidence).
Retinal disorders v1.110 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to 23105016; 24938718
Retinal disorders v1.109 DHX38 Ivone Leong Classified gene: DHX38 as Amber List (moderate evidence)
Retinal disorders v1.109 DHX38 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. DHX38 is associated with a phenotype in OMIM but not Gene2Phenotype. PMID: 24737827 reports 4 affected siblings from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma who have homozygous c.995G>A variant (G332). No functional studies were performed. PMID: 30208423 reports 2 different consanguineous Pakistani family who have members affected by early-onset retinitis pigmentosa. The authors found that the affected members had homozygous c.971G>A variants (R324Q). No functional studies were performed. Based on this evidence, it was decided that the gene should be promoted to an amber rating.
Retinal disorders v1.109 DHX38 Ivone Leong Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.108 CFH Ivone Leong Phenotypes for gene: CFH were changed from Macular Degeneration to {Macular degeneration, age-related, 4} 610698
Retinal disorders v1.107 DHX38 Ivone Leong Publications for gene: DHX38 were set to
Retinal disorders v1.106 DHX38 Ivone Leong Mode of inheritance for gene: DHX38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.105 DHX38 Ivone Leong Phenotypes for gene: DHX38 were changed from No OMIM disease ID to Retinitis pigmentosa 84, 618220
Retinal disorders v1.104 CACNA2D4 Ivone Leong Classified gene: CACNA2D4 as Green List (high evidence)
Retinal disorders v1.104 CACNA2D4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. CACNA2D4 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with retinal cone dystrophy with different variants in CACNA2D4. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.104 CACNA2D4 Ivone Leong Gene: cacna2d4 has been classified as Green List (High Evidence).
Retinal disorders v1.103 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to 17033974
Retinal disorders v1.102 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to
Retinal disorders v1.101 SEMA4A Ivone Leong Phenotypes for gene: SEMA4A were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa
Retinal disorders v1.100 SEMA4A Ivone Leong Publications for gene: SEMA4A were set to
Retinal disorders v1.99 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to
Retinal disorders v1.98 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652
Retinal disorders v1.97 CA4 Ivone Leong Publications for gene: CA4 were set to
Retinal disorders v1.96 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to
Retinal disorders v1.91 SCAPER Louise Daugherty Publications for gene: SCAPER were set to 28041643
Retinal disorders v1.90 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: GREEN
Retinal disorders v1.90 SCAPER Louise Daugherty Classified gene: SCAPER as Green List (high evidence)
Retinal disorders v1.90 SCAPER Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and internal clinical support for gene-disease association. Retinitis pigmentosa onset is variable and spans child / adult onset depending on the gene, so it is fine to be on the retinal panel.
Retinal disorders v1.90 SCAPER Louise Daugherty Gene: scaper has been classified as Green List (High Evidence).
Retinal disorders v1.89 SCAPER Louise Daugherty Mode of inheritance for gene: SCAPER was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.88 SCAPER Louise Daugherty commented on gene: SCAPER: Past onto internal clinical team for further review and consideration to upgrade rating to Green. Query on Retinitis pigmentosa onset.
Retinal disorders v1.88 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: AMBER
Retinal disorders v1.88 SCAPER Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.
Retinal disorders v1.88 SCAPER Louise Daugherty Phenotypes for gene: SCAPER were changed from More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism to More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism; Intellectual developmental disorder and retinitis pigmentosa, 618195
Retinal disorders v1.87 Ellen McDonagh Panel name changed from Posterior segment abnormalities to Retinal disorders
List of related panels changed from Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Retinal disorders C21orf2 Louise Daugherty commented on gene: C21orf2
Retinal disorders RDH5 Panagiotis Sergouniotis reviewed gene: RDH5
Retinal disorders RP1 Panagiotis Sergouniotis reviewed gene: RP1
Retinal disorders RP1 Panagiotis Sergouniotis reviewed gene: RP1
Retinal disorders PITPNM3 Ellen McDonagh commented on gene: PITPNM3
Retinal disorders HGSNAT Ellen McDonagh classified HGSNAT as Green List (high evidence)
Retinal disorders C2orf71 Louise Daugherty commented on gene: C2orf71
Retinal disorders RPGR Ellen McDonagh edited their review of RPGR
Retinal disorders RPE65 Ellen McDonagh edited their review of RPE65
Retinal disorders CNGB3 Ellen McDonagh edited their review of CNGB3
Retinal disorders CHM Ellen McDonagh edited their review of CHM
Retinal disorders PITPNM3 Andrew Webster reviewed PITPNM3
Retinal disorders HGSNAT Andrew Webster reviewed HGSNAT
Retinal disorders AGBL5 Ellen McDonagh classified AGBL5 as Green List (high evidence)
Retinal disorders AGBL5 Ellen McDonagh classified AGBL5 as Amber List (moderate evidence)
Retinal disorders C5orf42 Louise Daugherty commented on C5orf42
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Green List (high evidence)
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Amber List (moderate evidence)
Retinal disorders PRPS1 Ellen McDonagh Added gene to panel
Retinal disorders C21orf2 Rebecca Foulger classified C21orf2 as green
Retinal disorders C21orf2 Rebecca Foulger edited their review of C21orf2
Retinal disorders GPR143 Rebecca Foulger classified GPR143 as green
Retinal disorders GPR143 Rebecca Foulger commented on GPR143
Retinal disorders SLC38A8 Rebecca Foulger classified SLC38A8 as green
Retinal disorders SLC38A8 Rebecca Foulger commented on SLC38A8
Retinal disorders GPR143 Chris Campbell reviewed GPR143
Retinal disorders SLC38A8 Chris Campbell reviewed SLC38A8
Retinal disorders HGSNAT Ellen Thomas edited their review of HGSNAT
Retinal disorders HGSNAT Ellen Thomas added HGSNAT to panel
Retinal disorders HGSNAT Ellen Thomas reviewed HGSNAT
Retinal disorders C21orf2 Rebecca Foulger commented on C21orf2
Retinal disorders CTNNB1 Sarah Leigh classified CTNNB1 as green
Retinal disorders CTNNB1 Sarah Leigh added CTNNB1 to panel
Retinal disorders CTNNB1 Sarah Leigh reviewed CTNNB1
Retinal disorders EVR3 Louise Daugherty classified EVR3 as grey
Retinal disorders EVR3 Louise Daugherty commented on EVR3
Retinal disorders ARHGEF18 Ellen McDonagh classified ARHGEF18 as green
Retinal disorders ARHGEF18 Ellen McDonagh added ARHGEF18 to panel
Retinal disorders ARHGEF18 Ellen McDonagh reviewed ARHGEF18
Retinal disorders HK1 Ellen McDonagh classified HK1 as amber
Retinal disorders HK1 Ellen McDonagh added HK1 to panel
Retinal disorders HK1 Ellen McDonagh reviewed HK1
Retinal disorders NMNAT1 Ellen McDonagh edited their review of NMNAT1
Retinal disorders ATF6 Ellen McDonagh classified ATF6 as green
Retinal disorders ATF6 Ellen McDonagh classified ATF6 as green
Retinal disorders CEP78 Ellen McDonagh classified CEP78 as green
Retinal disorders CEP78 Ellen McDonagh added CEP78 to panel
Retinal disorders CEP78 Ellen McDonagh reviewed CEP78
Retinal disorders SEMA4A Gavin Arno reviewed SEMA4A
Retinal disorders C10orf11 Louise Daugherty commented on C10orf11
Retinal disorders CYP2R1 Sarah Leigh classified CYP2R1 as amber
Retinal disorders CYP2R1 Sarah Leigh added CYP2R1 to panel
Retinal disorders CYP2R1 Sarah Leigh reviewed CYP2R1
Retinal disorders MT-ND6 Ellen McDonagh commented on MT-ND6
Retinal disorders ERCC6 Richard Scott marked ERCC6 as ready
Retinal disorders ERCC6 Richard Scott classified ERCC6 as green
Retinal disorders ERCC8 Richard Scott marked ERCC8 as ready
Retinal disorders ERCC8 Richard Scott classified ERCC8 as green
Retinal disorders ERCC8 Richard Scott added ERCC8 to panel
Retinal disorders ERCC8 Richard Scott reviewed ERCC8
Retinal disorders ERCC6 Richard Scott reviewed ERCC6
Retinal disorders LRP2 Louise Daugherty classified LRP2 as red
Retinal disorders COL18A1 Louise Daugherty classified COL18A1 as red
Retinal disorders ADGRV1 BRIDGE consortium reviewed ADGRV1
Retinal disorders WASF3 Louise Daugherty commented on WASF3
Retinal disorders UBAP1L Louise Daugherty commented on UBAP1L
Retinal disorders SLC37A3 Louise Daugherty commented on SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty commented on PRTFDC1
Retinal disorders POMZP3 Louise Daugherty commented on POMZP3
Retinal disorders PODNL1 Louise Daugherty commented on PODNL1
Retinal disorders PLD4 Louise Daugherty commented on PLD4
Retinal disorders OR2M7 Louise Daugherty commented on OR2M7
Retinal disorders NUMB Louise Daugherty commented on NUMB
Retinal disorders NAALADL1 Louise Daugherty commented on NAALADL1
Retinal disorders ITIH2 Louise Daugherty commented on ITIH2
Retinal disorders IRX5 Louise Daugherty commented on IRX5
Retinal disorders FUT5 Louise Daugherty commented on FUT5
Retinal disorders FOXI2 Louise Daugherty commented on FOXI2
Retinal disorders FAM71A Louise Daugherty commented on FAM71A
Retinal disorders FAM57B Louise Daugherty commented on FAM57B
Retinal disorders CROCC Louise Daugherty commented on CROCC
Retinal disorders CCZ1B Louise Daugherty commented on CCZ1B
Retinal disorders SCAPER Louise Daugherty commented on SCAPER
Retinal disorders WASF3 Louise Daugherty reviewed WASF3
Retinal disorders UBAP1L Louise Daugherty reviewed UBAP1L
Retinal disorders SLC37A3 Louise Daugherty reviewed SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty reviewed PRTFDC1
Retinal disorders POMZP3 Louise Daugherty reviewed POMZP3
Retinal disorders PODNL1 Louise Daugherty reviewed PODNL1
Retinal disorders PLD4 Louise Daugherty reviewed PLD4
Retinal disorders OR2M7 Louise Daugherty reviewed OR2M7
Retinal disorders NUMB Louise Daugherty reviewed NUMB
Retinal disorders NAALADL1 Louise Daugherty reviewed NAALADL1
Retinal disorders ITIH2 Louise Daugherty reviewed ITIH2
Retinal disorders IRX5 Louise Daugherty reviewed IRX5
Retinal disorders FUT5 Louise Daugherty reviewed FUT5
Retinal disorders FOXI2 Louise Daugherty reviewed FOXI2
Retinal disorders FAM71A Louise Daugherty reviewed FAM71A
Retinal disorders FAM57B Louise Daugherty reviewed FAM57B
Retinal disorders CROCC Louise Daugherty reviewed CROCC
Retinal disorders CCZ1B Louise Daugherty reviewed CCZ1B
Retinal disorders SCAPER Louise Daugherty reviewed SCAPER
Retinal disorders VPS13B BRIDGE consortium reviewed VPS13B
Retinal disorders VCAN BRIDGE consortium reviewed VCAN
Retinal disorders USH2A BRIDGE consortium reviewed USH2A
Retinal disorders USH1C BRIDGE consortium reviewed USH1C
Retinal disorders TSPAN12 BRIDGE consortium reviewed TSPAN12
Retinal disorders TRPM1 BRIDGE consortium reviewed TRPM1
Retinal disorders TOPORS BRIDGE consortium reviewed TOPORS
Retinal disorders SPATA7 BRIDGE consortium reviewed SPATA7
Retinal disorders SNRNP200 BRIDGE consortium reviewed SNRNP200
Retinal disorders RPGRIP1 BRIDGE consortium reviewed RPGRIP1
Retinal disorders RPGR BRIDGE consortium reviewed RPGR
Retinal disorders RPE65 BRIDGE consortium reviewed RPE65
Retinal disorders RP2 BRIDGE consortium reviewed RP2
Retinal disorders RP1 BRIDGE consortium reviewed RP1
Retinal disorders RLBP1 BRIDGE consortium reviewed RLBP1
Retinal disorders RHO BRIDGE consortium reviewed RHO
Retinal disorders RGR BRIDGE consortium reviewed RGR
Retinal disorders RBP4 BRIDGE consortium reviewed RBP4
Retinal disorders PRPH2 BRIDGE consortium reviewed PRPH2
Retinal disorders PRPF8 BRIDGE consortium reviewed PRPF8
Retinal disorders PRPF31 BRIDGE consortium reviewed PRPF31
Retinal disorders PROM1 BRIDGE consortium reviewed PROM1
Retinal disorders PDE6C BRIDGE consortium reviewed PDE6C
Retinal disorders PDE6B BRIDGE consortium reviewed PDE6B
Retinal disorders PCDH15 BRIDGE consortium reviewed PCDH15
Retinal disorders OTX2 BRIDGE consortium reviewed OTX2
Retinal disorders OPN1LW BRIDGE consortium reviewed OPN1LW
Retinal disorders OPA1 BRIDGE consortium reviewed OPA1
Retinal disorders OCA2 BRIDGE consortium reviewed OCA2
Retinal disorders NR2E3 BRIDGE consortium reviewed NR2E3
Retinal disorders NMNAT1 BRIDGE consortium reviewed NMNAT1
Retinal disorders MYO7A BRIDGE consortium reviewed MYO7A
Retinal disorders MFSD8 BRIDGE consortium reviewed MFSD8
Retinal disorders MFRP BRIDGE consortium reviewed MFRP
Retinal disorders MERTK BRIDGE consortium reviewed MERTK
Retinal disorders LRP5 BRIDGE consortium reviewed LRP5
Retinal disorders LRP2 BRIDGE consortium reviewed LRP2
Retinal disorders LCA5 BRIDGE consortium reviewed LCA5
Retinal disorders KLHL7 BRIDGE consortium reviewed KLHL7
Retinal disorders KCNV2 BRIDGE consortium reviewed KCNV2
Retinal disorders IQCB1 BRIDGE consortium reviewed IQCB1
Retinal disorders IMPG2 BRIDGE consortium reviewed IMPG2
Retinal disorders IMPG1 BRIDGE consortium reviewed IMPG1
Retinal disorders GUCY2D BRIDGE consortium reviewed GUCY2D
Retinal disorders GUCA1A BRIDGE consortium reviewed GUCA1A
Retinal disorders GRM6 BRIDGE consortium reviewed GRM6
Retinal disorders GRK1 BRIDGE consortium reviewed GRK1
Retinal disorders GPR98 BRIDGE consortium reviewed GPR98*
Retinal disorders GPR179 BRIDGE consortium reviewed GPR179
Retinal disorders GPR143 BRIDGE consortium reviewed GPR143
Retinal disorders FLVCR1 BRIDGE consortium reviewed FLVCR1
Retinal disorders FAM161A BRIDGE consortium reviewed FAM161A
Retinal disorders EYS BRIDGE consortium reviewed EYS
Retinal disorders CYP4V2 BRIDGE consortium reviewed CYP4V2
Retinal disorders CRX BRIDGE consortium reviewed CRX
Retinal disorders CRB1 BRIDGE consortium reviewed CRB1
Retinal disorders COL2A1 BRIDGE consortium reviewed COL2A1
Retinal disorders COL18A1 BRIDGE consortium reviewed COL18A1
Retinal disorders COL11A2 BRIDGE consortium reviewed COL11A2
Retinal disorders CNGB3 BRIDGE consortium reviewed CNGB3
Retinal disorders CNGB1 BRIDGE consortium reviewed CNGB1
Retinal disorders CNGA3 BRIDGE consortium reviewed CNGA3
Retinal disorders CNGA1 BRIDGE consortium reviewed CNGA1
Retinal disorders CLN3 BRIDGE consortium reviewed CLN3
Retinal disorders CERKL BRIDGE consortium reviewed CERKL
Retinal disorders CEP290 BRIDGE consortium reviewed CEP290
Retinal disorders CDHR1 BRIDGE consortium reviewed CDHR1
Retinal disorders CACNA2D4 BRIDGE consortium reviewed CACNA2D4
Retinal disorders CACNA1F BRIDGE consortium reviewed CACNA1F
Retinal disorders CABP4 BRIDGE consortium reviewed CABP4
Retinal disorders C2orf71 BRIDGE consortium reviewed C2orf71
Retinal disorders BBS10 BRIDGE consortium reviewed BBS10
Retinal disorders BBS1 BRIDGE consortium reviewed BBS1
Retinal disorders ATF6 BRIDGE consortium reviewed ATF6
Retinal disorders ALMS1 BRIDGE consortium reviewed ALMS1
Retinal disorders AIPL1 BRIDGE consortium reviewed AIPL1
Retinal disorders AHI1 BRIDGE consortium reviewed AHI1
Retinal disorders ABHD12 BRIDGE consortium reviewed ABHD12
Retinal disorders ABCA4 BRIDGE consortium reviewed ABCA4
Retinal disorders EVR3 Ellen McDonagh commented on EVR3
Retinal disorders DFNB31 Louise Daugherty commented on DFNB31
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Retinal disorders SLC38A8 Mervyn Thomas added SLC38A8 to panel
Retinal disorders SLC38A8 Mervyn Thomas reviewed SLC38A8
Retinal disorders GPR143 Mervyn Thomas reviewed GPR143
Retinal disorders ABCA4 Ellen Thomas commented on ABCA4
Retinal disorders AGBL5 Ellen Thomas added AGBL5 to panel
Retinal disorders AGBL5 Ellen Thomas reviewed AGBL5
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB