Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mendeliome v1.406 | IMPA1 | Bryony Thompson Marked gene: IMPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.406 | IMPA1 | Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.406 | IMPA1 | Bryony Thompson Classified gene: IMPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.406 | IMPA1 | Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.405 | IMPA1 |
Bryony Thompson gene: IMPA1 was added gene: IMPA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: IMPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IMPA1 were set to 26416544; 24554717; 32839513; 17460611 Phenotypes for gene: IMPA1 were set to intellectual disability, autosomal recessive 59 MONDO:0015020 Review for gene: IMPA1 was set to AMBER Added comment: A homozygous frameshift variant identified in a large Brazilian consanguineous family with ID, also supporting functional studies and null mouse models. Sources: Literature |