Activity
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6 actions
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| Early onset or syndromic epilepsy v7.39 | AASS | Sarah Leigh Tag Q3_24_promote_green was removed from gene: AASS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.39 | AASS | Sarah Leigh reviewed gene: AASS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.38 | AASS |
Sarah Leigh Source NHS GMS was added to AASS. Source Expert Review Green was added to AASS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v7.13 | AASS | Arina Puzriakova Classified gene: AASS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.13 | AASS | Arina Puzriakova Gene: aass has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.12 | AASS |
Arina Puzriakova gene: AASS was added gene: AASS was added to Early onset or syndromic epilepsy. Sources: Literature Q3_24_promote_green tags were added to gene: AASS. Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23890588; 10775527; 27604308; 23570448 Phenotypes for gene: AASS were set to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 Review for gene: AASS was set to GREEN Added comment: AASS associated with hyperlysinemia in ClinGen (definitive), G2P (strong) and OMIM. At least 10 probands in 4 publications (PMIDs: 23890588, 10775527, 27604308, 23570448), of which at least 4 cases had epilepsy. Seizures can represent an early feature of the disorder which supports inclusion of AASS on this panel. This gene-disease relationship is supported by its biochemical function in lysine catabolism and a knock-in mouse model which recapitulates the human phenotype of hyperlysinemia (PMID: 35135854). Sources: Literature |
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