| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Diarrhoea v1.16 | GRWD1 | Bryony Thompson Marked gene: GRWD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.16 | GRWD1 | Bryony Thompson Gene: grwd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.16 | GRWD1 | Bryony Thompson Classified gene: GRWD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.16 | GRWD1 | Bryony Thompson Gene: grwd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.15 | GRWD1 |
Bryony Thompson gene: GRWD1 was added gene: GRWD1 was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: GRWD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRWD1 were set to 40174224 Phenotypes for gene: GRWD1 were set to Congenital diarrhoea MONDO:0000824 Review for gene: GRWD1 was set to AMBER Added comment: Single family (sib pair) with biallelic missense variants. Supporting zebrafish model and in vitro functional assays. Deficiency is the expected mechanism of disease. Sources: Literature |
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