| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.65 | HIBADH | Zornitza Stark Marked gene: HIBADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.65 | HIBADH | Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.65 | HIBADH | Zornitza Stark Classified gene: HIBADH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.65 | HIBADH | Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | HIBADH |
Sangavi Sivagnanasundram gene: HIBADH was added gene: HIBADH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136; 35174513 Phenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371 Review for gene: HIBADH was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058 Reported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype. Sources: ClinGen |
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