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| Mendeliome v1.3722 | HIBADH | Lucy Spencer Phenotypes for gene: HIBADH were changed from Organic aciduria to 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3721 | HIBADH | Lucy Spencer Classified gene: HIBADH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3721 | HIBADH | Lucy Spencer Gene: hibadh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3720 | HIBADH | Lucy Spencer reviewed gene: HIBADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 35174513, 34176136; Phenotypes: 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10031 | HIBADH | Zornitza Stark Marked gene: HIBADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10031 | HIBADH | Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10031 | HIBADH |
Zornitza Stark gene: HIBADH was added gene: HIBADH was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136 Phenotypes for gene: HIBADH were set to Organic aciduria Review for gene: HIBADH was set to RED Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies Sources: Literature |
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