| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.107 | MED13L | Bryony Thompson Marked gene: MED13L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.107 | MED13L | Bryony Thompson Gene: med13l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.107 | MED13L | Bryony Thompson Classified gene: MED13L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.107 | MED13L | Bryony Thompson Gene: med13l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.106 | MED13L |
Bryony Thompson gene: MED13L was added gene: MED13L was added to Ataxia. Sources: Literature Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MED13L were set to 29511999 Phenotypes for gene: MED13L were set to syndromic intellectual disability, MONDO:0000508 Review for gene: MED13L was set to GREEN Added comment: PMID 29511999 reports 36 individuals from 35 families with heterozygous de novo loss-of-function or missense variants in MED13L, presenting with intellectual disability, severe speech impairment, hypotonia and ataxia (observed in ~34% of cases). The gene acts via haploinsufficiency (loss-of-function) with an autosomal dominant de novo inheritance pattern and no contradictory evidence. Sources: Literature |
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