Activity
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11 actions
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| Retinal disorders v7.8 | DCT |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCT. Tag Q3_24_NHS_review was removed from gene: DCT. |
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| Retinal disorders v7.8 | DCT | Achchuthan Shanmugasundram reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | DCT |
Achchuthan Shanmugasundram Source NHS GMS was added to DCT. Source Expert Review Green was added to DCT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.1 | DCT | Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: DCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | DCT |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DCT. Tag Q3_24_NHS_review tag was added to gene: DCT. Tag Q3_24_MOI tag was added to gene: DCT. |
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| Retinal disorders v6.15 | DCT | Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | DCT | Sarah Leigh Phenotypes for gene: DCT were changed from oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.14 | DCT | Sarah Leigh Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.13 | DCT | Sarah Leigh Classified gene: DCT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.13 | DCT | Sarah Leigh Gene: dct has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | DCT |
Mohammed Derar gene: DCT was added gene: DCT was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) Phenotypes for gene: DCT were set to oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN Added comment: Biallelic variants in DCT are reported to cause oculocutaneous albinism type 8 in multiple unrelated and affected families. This form of albinism has subtle hypopigmentation and displays the classical ocular manifestations of foveal hypoplasia, iris transillumination defect and fundus hypopigmentation. It is therefore imperative to sprobe DCT in patients with retinal abnormalities and presumbly normal pigmentation. Sources: Literature |
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