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| Lissencephaly and Band Heterotopia v0.67 | SRD5A3 | Zornitza Stark Marked gene: SRD5A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.67 | SRD5A3 | Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.67 | SRD5A3 | Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq (MIM#612379) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.66 | SRD5A3 | Zornitza Stark Publications for gene: SRD5A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.65 | SRD5A3 | Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.64 | SRD5A3 | Zornitza Stark Classified gene: SRD5A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.64 | SRD5A3 | Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.60 | SRD5A3 |
Paul De Fazio changed review comment from: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.; to: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported. Not sure this gene should be on this panel. Have added to polymicrogyria panel instead. |
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| Lissencephaly and Band Heterotopia v0.60 | SRD5A3 | Paul De Fazio reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: None; Publications: 18271001, 20637498, 31638560, 27480077; Phenotypes: Congenital disorder of glycosylation, type Iq (MIM#612379); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.0 | SRD5A3 |
Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to Unknown |
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