Activity
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15 actions
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| Retinal disorders v8.55 | RDH5 | Eleanor Williams Added comment: Comment on mode of inheritance: Recommendation that the mode of inheritance be updated to Biallelic only. Only 2 cases with single heterozygous variants were reported in a single publication from 2012 with no further cases reported since | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.55 | RDH5 | Eleanor Williams Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.54 | RDH5 | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 15th October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.54 | RDH5 | Eleanor Williams Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Congenital Stationary Night Blindness; Fundus albipunctatus, 136880; Fundus albipunctatus to Fundus albipunctatus, OMIM:136880; fundus albipunctatus, MONDO:0007639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.53 | RDH5 | Eleanor Williams Publications for gene: RDH5 were set to 21529959; 34726233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams Tag Q3_25_MOI tag was added to gene: RDH5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams edited their review of gene: RDH5: Changed phenotypes to: Fundus albipunctatus, OMIM:136880, fundus albipunctatus, MONDO:0007639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529959,, 22815624, 10369264, 25820994, 32232344; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | RDH5 | Cassandra Smith reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.31 | RDH5 |
Achchuthan Shanmugasundram changed review comment from: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).; to: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula). In addition, a review of the database of patients with inherited retinal disease at Moorfields Eye Hospital London and The Hospital for Sick Children Toronto identified 17 patients with confirmed biallelic mutations in RDH5. Of these, seven patients (from six families) had macular atrophy evident on SD-OCT and/or fundus autofluorescence imaging. |
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| Retinal disorders v3.31 | RDH5 | Achchuthan Shanmugasundram Added comment: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.31 | RDH5 | Achchuthan Shanmugasundram Publications for gene: RDH5 were set to 21529959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | RDH5 | Gavin Arno reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| Retinal disorders | RDH5 | Panagiotis Sergouniotis reviewed gene: RDH5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||