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| Mendeliome v2.177 | SORBS2 | Lucy Spencer Classified gene: SORBS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.177 | SORBS2 | Lucy Spencer Gene: sorbs2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.176 | SORBS2 |
Lucy Spencer gene: SORBS2 was added gene: SORBS2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SORBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SORBS2 were set to 34099102; 32808564; 39912518; 31790498 Phenotypes for gene: SORBS2 were set to congenital heart disease MONDO:0005453, SORBS2-related; familial Alzheimer disease MONDO:0100087, SORBS2-related Review for gene: SORBS2 was set to AMBER Added comment: PMID 34099102 reports that rare SORBS2 variants are enriched in a cohort of 300 CHD patients. In the supplementary data they report 11 variants in 21 individuals all missense and all present in gnomad most with over 10 hets 1 with 1 hom and 300 hets. Several of the patients had multiple variants of interest in multiple genes. Some functional evidence suggested a few of the missense variants causes protein aggregation. Amber for now PMID 32808564 identified 2 patients with arrhythmogenic cardiomyopathy and SORBS2 canonical splice variants. Also did some mouse model studies. PMID: 39912518 5 affected individuals from one family with Alzheimer’s disease and T189M in SORBS2 (T89M in gnomad, 16 hets no homs). Transgenic mice with this variant also showed cognitive decline and increased intraneuronal AB deposition in the cortex. PMID: 31790498 reports one family with hypotrichosis and woolly hair and a missense in this gene. Not investigated Amber for all associations Sources: Literature |
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