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| Polymicrogyria and Schizencephaly v0.110 | SRD5A3 | Seb Lunke Marked gene: SRD5A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.110 | SRD5A3 | Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.110 | SRD5A3 | Seb Lunke Classified gene: SRD5A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.110 | SRD5A3 | Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.97 | SRD5A3 |
Paul De Fazio gene: SRD5A3 was added gene: SRD5A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 18271001; 20637498; 31638560; 27480077 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq (MIM#612379) Review for gene: SRD5A3 was set to RED gene: SRD5A3 was marked as current diagnostic Added comment: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported in 2 individuals from the same family in PMID: 18271001, but given that it is only this one family I have rated it red. Sources: Literature |
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