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| Fetal anomalies v0.222 | ASAH1 | Rebecca Foulger edited their review of gene: ASAH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can (rarely) cause arthrogryposis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASAH1 | Rebecca Foulger commented on gene: ASAH1: DDG2P rating in original PAGE list: Confirmed for FARBER LIPOGRANULOMATOSIS and Confirmed for SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ASAH1 | Rebecca Foulger reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ASAH1 | Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY for gene: ASAH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ASAH1 |
Rebecca Foulger gene: ASAH1 was added gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS |
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