| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Diarrhoea v1.19 | MYO1A | Bryony Thompson Marked gene: MYO1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.19 | MYO1A | Bryony Thompson Gene: myo1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.19 | MYO1A | Bryony Thompson Classified gene: MYO1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.19 | MYO1A | Bryony Thompson Gene: myo1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.18 | MYO1A |
Sangavi Sivagnanasundram gene: MYO1A was added gene: MYO1A was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: MYO1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO1A were set to 40174224 Phenotypes for gene: MYO1A were set to Congenital diarrhea, MONDO:0000824 Review for gene: MYO1A was set to AMBER Added comment: A male infant presenting with congenital diarrhea from the age of 2. Compound heterozygous variants in MYO1A detected in trans were identified (I678F (FAF 0.5%); D240N (FAF - 0.004%) Supportive functional assay in patient fibroblasts was conducted along with a knockout mice model recapitulating human phenotype and findings consistent with the findings from the probands biopsy. Sources: Literature |
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