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| Mendeliome v1.4313 | Bryony Thompson Copied STR RAPGEF2_FAME7_TTTCA from panel Genetic Epilepsy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4313 | RAPGEF2_FAME7_TTTCA |
Bryony Thompson STR: RAPGEF2_FAME7_TTTCA was added STR: RAPGEF2_FAME7_TTTCA was added to Mendeliome. Sources: Expert Review Amber,Literature Mode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773 Phenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075 |
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| Mendeliome v1.4312 | RAPGEF2 | Bryony Thompson Marked gene: RAPGEF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4312 | RAPGEF2 | Bryony Thompson Gene: rapgef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4312 | RAPGEF2 | Bryony Thompson Phenotypes for gene: RAPGEF2 were changed from ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4311 | RAPGEF2 | Bryony Thompson Publications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4310 | RAPGEF2 | Bryony Thompson Classified gene: RAPGEF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4310 | RAPGEF2 | Bryony Thompson Gene: rapgef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4309 | RAPGEF2 | Bryony Thompson reviewed gene: RAPGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 41556274, 30636905; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, amyotrophic lateral sclerosis MONDO:0004976; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1457 | RAPGEF2 | Zornitza Stark Tag STR tag was added to gene: RAPGEF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1455 | RAPGEF2 |
Belinda Chong gene: RAPGEF2 was added gene: RAPGEF2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423 Phenotypes for gene: RAPGEF2 were set to ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Review for gene: RAPGEF2 was set to RED Added comment: Heterozygous 5-bp repeat expansion (TTTCA(n)) in intron 14 of RAPGEF2 gene. Two individuals previously reported (PMID: 30351492 and 29507423) with seizures Sources: Literature |
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