| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.95 | L2HGDH | Bryony Thompson Marked gene: L2HGDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.95 | L2HGDH | Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.95 | L2HGDH | Bryony Thompson Classified gene: L2HGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.95 | L2HGDH | Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.94 | L2HGDH |
Bryony Thompson gene: L2HGDH was added gene: L2HGDH was added to Ataxia. Sources: Literature Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 42205672; 40870031; 40660807; 38716347; 37275239; 36462087; 33061758 Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, MONDO:0009370 Review for gene: L2HGDH was set to GREEN Added comment: PMID 36462087, PMID 37275239, PMID 33061758, PMID 40660807, PMID 38716347, PMID 40870031 and PMID 42205672 together report 52 individuals from 38 families with biallelic L2HGDH loss‑of‑function variants presenting with L‑2‑hydroxyglutaric aciduria, characterised by progressive cerebellar ataxia, developmental delay, seizures and movement disorders. Sources: Literature |
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