| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.58 | HAAO | Zornitza Stark Marked gene: HAAO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.58 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.58 | HAAO | Zornitza Stark Classified gene: HAAO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.58 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | HAAO |
Sangavi Sivagnanasundram gene: HAAO was added gene: HAAO was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 37499065; 28792876; 33942433 Phenotypes for gene: HAAO were set to vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Review for gene: HAAO was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/06/2022 - https://search.clinicalgenome.org/CCID:005026 Reported in >3 unrelated probands with biochemical abnormalities. LoF appears to be the mechanism of disease. Sources: ClinGen |
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