| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Diarrhoea v1.18 | MON1A | Bryony Thompson Marked gene: MON1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.18 | MON1A | Bryony Thompson Gene: mon1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.18 | MON1A | Bryony Thompson Classified gene: MON1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.18 | MON1A | Bryony Thompson Gene: mon1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.17 | MON1A |
Bryony Thompson gene: MON1A was added gene: MON1A was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: MON1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MON1A were set to 40174224 Phenotypes for gene: MON1A were set to Congenital diarrhea MONDO:0000824 Review for gene: MON1A was set to AMBER Added comment: A single homozygous (R249C) case with congenital diarrhoea from a consanguineous family. Supporting in vitro assays and expression studies in the patient cells. Also, a knockout zebrafish model that had a phenotype consistent with enteropathy. Sources: Literature |
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