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| Mendeliome v2.428 | ATRAID |
Sangavi Sivagnanasundram gene: ATRAID was added gene: ATRAID was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATRAID was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRAID were set to 42417592 Phenotypes for gene: ATRAID were set to ATRAID-related retinitis pigmentosa, MONDO:0019200 Review for gene: ATRAID was set to RED Added comment: PMID 42417592 reports six individuals from four Norwegian families (one family is consanguineous) with biallelic frameshift variants presenting with late‑onset, non‑syndromic retinitis pigmentosa. Clinical features include mid‑peripheral chorioretinal atrophy, bone‑spicule pigmentation and rod‑cone dysfunction. LoF is not an established mechanism of disease for this gene yet. gnomAD v4.1 pLI = 0 o/e = 0.9 (0.66 - 1.25) and there are no reported pathogenic LoF variants reported in ClinVar. Sources: Literature |
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