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| Arthrogryposis v2.117 | DYNC1H1 | Rebecca Foulger Source Expert list was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.113 | DYNC1H1 | Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 to arthrogryposis; neuronal migration abnormalities; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.112 | DYNC1H1 | Rebecca Foulger Classified gene: DYNC1H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.112 | DYNC1H1 | Rebecca Foulger Added comment: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.112 | DYNC1H1 | Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.111 | DYNC1H1 |
Rebecca Foulger Source Other was removed from DYNC1H1. Source NHS GMS was added to DYNC1H1. |
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| Arthrogryposis v2.110 | DYNC1H1 | Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; spinal muscular atrophy with lower extremity predominance to arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.109 | DYNC1H1 | Rebecca Foulger Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.108 | DYNC1H1 | Rebecca Foulger commented on gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.108 | DYNC1H1 | Julie Vogt edited their review of gene: DYNC1H1: Changed phenotypes: arthrogryposis, spinal muscular atrophy with lower extremity predominance, neuronal migration abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.108 | DYNC1H1 |
Julie Vogt gene: DYNC1H1 was added gene: DYNC1H1 was added to Arthrogryposis. Sources: Other Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554 Phenotypes for gene: DYNC1H1 were set to arthrogryposis; spinal muscular atrophy with lower extremity predominance Review for gene: DYNC1H1 was set to GREEN gene: DYNC1H1 was marked as current diagnostic Added comment: Sources: Other |
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