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| Mendeliome v1.2415 | C19orf44 | Zornitza Stark Marked gene: C19orf44 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2415 | C19orf44 | Zornitza Stark Gene: c19orf44 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2415 | C19orf44 | Zornitza Stark Classified gene: C19orf44 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2415 | C19orf44 | Zornitza Stark Gene: c19orf44 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2413 | C19orf44 | Sangavi Sivagnanasundram edited their review of gene: C19orf44: Changed phenotypes: Late onset retinal dystrophy, MONDO:0019118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2413 | C19orf44 |
Sangavi Sivagnanasundram gene: C19orf44 was added gene: C19orf44 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf44 were set to 40079362 Phenotypes for gene: C19orf44 were set to Late onset retinal dystrophy; MONDO:0019118 Review for gene: C19orf44 was set to GREEN Added comment: 5 biallelic LoF variants were identified in 11 unrelated families of Jewish or Israeli ancestry. All affected individuals present with a form of retinal disorder including perifoveal chorioretinal atrophy and electroretinographic features of rod-cone degeneration. All 5 variants were present in gnomAD v4.1 with varying AF (p.Ser325PhefsTer16 being the most common). Sources: Literature |
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