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| Congenital nystagmus v0.137 | SLC24A5 | Zornitza Stark Marked gene: SLC24A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.137 | SLC24A5 | Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.137 | SLC24A5 | Zornitza Stark Phenotypes for gene: SLC24A5 were changed from Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI to Albinism, oculocutaneous, type VI, MIM# 113750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.136 | SLC24A5 | Zornitza Stark Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | SLC24A5 | Zornitza Stark Added phenotypes Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI for gene: SLC24A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.0 | SLC24A5 |
Zornitza Stark gene: SLC24A5 was added gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported Phenotypes for gene: SLC24A5 were set to Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI |
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