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| Mendeliome v2.308 | MUC6 | chirag patel Marked gene: MUC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.308 | MUC6 | chirag patel Gene: muc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.308 | MUC6 |
chirag patel gene: MUC6 was added gene: MUC6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MUC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MUC6 were set to 30047301 Phenotypes for gene: MUC6 were set to Pulmonary arterial hypertension, MONDO:0015924 Review for gene: MUC6 was set to RED Added comment: PMID 30047301 reports 4 individuals from 2 unrelated Chinese families with pulmonary arterial hypertension, with the same heterozygous missense variant (p.Pro1716Ser) in MUC6 gene. This was validated with Sanger sequencing, and the same variant was also observed in a cohort of 20/30 individuals with idiopathic PAH. The variant is absent in gnomAD v4 and lies in the variable tandem repeat domain. No functional studies were performed. Sources: Literature |
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