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| Mendeliome v0.6173 | BCAT2 | Bryony Thompson Marked gene: BCAT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6173 | BCAT2 | Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6173 | BCAT2 | Bryony Thompson Classified gene: BCAT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6173 | BCAT2 | Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6172 | BCAT2 |
Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. Sources: NHS GMS |
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| Mendeliome v0.6172 | BCAT2 | Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 14755340, 25653144, 31177572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6172 | BCAT2 |
Bryony Thompson gene: BCAT2 was added gene: BCAT2 was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAT2 were set to 14755340; 25653144 Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism Review for gene: BCAT2 was set to AMBER Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. Sources: NHS GMS |
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