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| Mendeliome v1.4665 | BNIP1 | Bryony Thompson edited their review of gene: BNIP1: Added comment: PMIDs 35266227 and 39706863 report a total of 3 unrelated families with homozygous hypomorphic BNIP1 variants with childhood‑onset spondylo‑epiphyseal dysplasia. Affected individuals present with disproportionate short stature, vertebral and epiphyseal abnormalities. Functional studies in the two families from PMID 35266227 demonstrate abnormal splicing, ~50% reduction of BNIP1 protein, accumulation of LC3B‑positive autophagosomes and impaired autophagic flux, supporting a loss‑of‑function mechanism. The third family adds an independent case without functional validation. No contradictory evidence is reported.; Changed publications: 39706863, 35266227; Changed phenotypes: Syndromic disease, MONDO:0002254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3107 | BNIP1 | Zornitza Stark Phenotypes for gene: BNIP1 were changed from spondyloepiphyseal dysplasia MONDO:0016761 to Spondylopeiphyseal dysplasia, Holling type, MIM# 621345 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3106 | BNIP1 | Zornitza Stark reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylopeiphyseal dysplasia, Holling type, MIM# 621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12371 | BNIP1 | Bryony Thompson Marked gene: BNIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12371 | BNIP1 | Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12371 | BNIP1 | Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12371 | BNIP1 | Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12370 | BNIP1 |
Bryony Thompson gene: BNIP1 was added gene: BNIP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BNIP1 were set to 35266227; 31344970 Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761 Review for gene: BNIP1 was set to AMBER Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation. Sources: Literature |
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