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| Mendeliome v1.4934 | APBA1 |
Rylee Peters gene: APBA1 was added gene: APBA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: APBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APBA1 were set to 42018264 Phenotypes for gene: APBA1 were set to Obesity disorder, MONDO:0011122, APBA1-related Review for gene: APBA1 was set to AMBER Added comment: PMID: 42018264 reports 2 individuals from 2 unrelated families with heterozygous APBA1 variants inherited from obese mothers, presenting with severe early‑onset obesity, hyperphagia and impaired expressive language development. The reported variants include one NMD-predicted variant and a +3 non-canonical splice site variant with an unknown splicing outcome adjacent to the penultimate exon which is in-frame. Sources: Literature |
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