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| Motor Neurone Disease v1.42 | RAPGEF2 | Bryony Thompson Marked gene: RAPGEF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.42 | RAPGEF2 | Bryony Thompson Gene: rapgef2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.42 | RAPGEF2 | Bryony Thompson Classified gene: RAPGEF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.42 | RAPGEF2 | Bryony Thompson Gene: rapgef2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.41 | RAPGEF2 |
Bryony Thompson changed review comment from: Red for ALS & green for neurodevelopmental disorder PMID: 30636905 - single individual with early‑onset ALS and a de novo missense gain‑of‑function variant PMID: 41556274 - 5 unrelated individuals with a childhood‑onset neurodevelopmental disorder with de novo likely haploinsufficient loss‑of‑function variants.; to: A single individual with early‑onset ALS and a de novo missense gain‑of‑function variant |
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| Motor Neurone Disease v1.41 | RAPGEF2 | Bryony Thompson edited their review of gene: RAPGEF2: Changed rating: RED; Changed publications: 30636905; Changed phenotypes: amyotrophic lateral sclerosis MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.41 | Bryony Thompson Copied gene RAPGEF2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.41 | RAPGEF2 |
Bryony Thompson gene: RAPGEF2 was added gene: RAPGEF2 was added to Motor Neurone Disease. Sources: Expert Review Green,Literature STR tags were added to gene: RAPGEF2. Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAPGEF2 were set to 41556274; 30636905 Phenotypes for gene: RAPGEF2 were set to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976 |
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