| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.38 | PERCC1 | chirag patel Marked gene: PERCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.38 | PERCC1 | chirag patel Gene: percc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.38 | PERCC1 | chirag patel Classified gene: PERCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.38 | PERCC1 | chirag patel Gene: percc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.37 | PERCC1 |
chirag patel gene: PERCC1 was added gene: PERCC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PERCC1 were set to 41577959; 42110144; 39473069; 36076104; 31217582; 39359949; 40174224 Phenotypes for gene: PERCC1 were set to Congenital diarrhea, MONDO:0000824, PERCC1-related Review for gene: PERCC1 was set to GREEN Added comment: 16 individuals from 13 families (6 consanguineous) with biallelic loss-of-function PERCC1 variants causing congenital enteropathy characterised by infancy‑onset intractable diarrhoea, failure to thrive and intestinal failure. Variant types include nonsense and deletions (intragenic and whole gene). Mouse models showed that targeted deletion of PERCC1 led to reduced body weight and intestinal dysfunction, reversible by PERCC1 transgene insertion. RNA sequencing demonstrated that mice with the disrupted gene had reduced gastrin, somatostatin and ghrelin expression from enteroendocrine cells (EEC), and low serum gastrin implicating PERCC1 in normal EEC function. Sources: Literature |
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