| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.2 | ATP13A2 | Bryony Thompson Marked gene: ATP13A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.2 | ATP13A2 | Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.2 | ATP13A2 | Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.2 | ATP13A2 | Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.1 | ATP13A2 |
Bryony Thompson gene: ATP13A2 was added gene: ATP13A2 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 40028680; 30992063 Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MONDO:0011706 Review for gene: ATP13A2 was set to GREEN Added comment: PMID 40028680 reports four individuals from two unrelated families with biallelic loss‑of‑function ATP13A2 variants (p.Arg487* homozygous; compound heterozygous p.Arg819* and p.Leu823Pro) presenting with an ALS‑like motor neuron disease characterised by progressive weakness, tongue fasciculations, spasticity, cognitive decline and juvenile‑onset parkinsonism. PMID 30992063 adds two unrelated families, one harbouring a homozygous nonsense p.Glu613Ter variant that segregates with disease and is absent from population databases, with functional zebrafish knock‑down and rescue confirming loss‑of‑function; the second family carries a homozygous missense p.Ile411Met variant present in gnomAD, which does not meet the qualifying variant criteria. Across the combined evidence, three independent families with qualifying biallelic loss‑of‑function variants fulfil the ≥3‑family threshold for Criterion A. The autosomal recessive inheritance and the recognisable ALS‑like phenotype are clinically actionable, supporting inclusion of ATP13A2 on the Motor Neurone Disease panel. Sources: Literature |
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