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| Fetal anomalies v2.0 | SEPTIN9 | Gene symbol changed from SEPT9 to SEPTIN9 during gene set migration (ENSG00000184640 -> ENSG00000184640) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | SEPT9 |
Krithika Murali gene: SEPT9 was added gene: SEPT9 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049; 18492087 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100 Review for gene: SEPT9 was set to AMBER Added comment: No new relevant published evidence since last PanelApp review May 2021 -- Only one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA. New gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported. Sources: Literature |
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