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| Mendeliome v0.7617 | SEPT9 | Zornitza Stark Publications for gene: SEPT9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7616 | SEPT9 | Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7615 | SEPT9 |
Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9. Tag 5'UTR tag was added to gene: SEPT9. Tag founder tag was added to gene: SEPT9. Tag new gene name tag was added to gene: SEPT9. |
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| Mendeliome v0.7615 | SEPT9 | Zornitza Stark edited their review of gene: SEPT9: Added comment: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. Multiple founder variants, including p.Arg88Trp. Also note intragenic duplication and 5'UTR variant reported, which may not be detectable by all NGS assays.; Changed publications: 16186812, 19451530, 19939853, 19139049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.693 | SEPT9 | Zornitza Stark Marked gene: SEPT9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.693 | SEPT9 | Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.693 | SEPT9 | Zornitza Stark Phenotypes for gene: SEPT9 were changed from to Amyotrophy, hereditary neuralgic, MIM# 162100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.692 | SEPT9 | Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SEPT9 |
Zornitza Stark gene: SEPT9 was added gene: SEPT9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEPT9 was set to Unknown |
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