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Mendeliome v0.4091 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Mendeliome v0.4091 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Mendeliome v0.4091 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM#612379; Kahrizi syndrome, MIM# 612713
Mendeliome v0.4090 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Mendeliome v0.4089 SRD5A3 Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4088 SRD5A3 Zornitza Stark Deleted their comment
Mendeliome v0.4088 SRD5A3 Zornitza Stark edited their review of gene: SRD5A3: Added comment: Over 25 families reported, well established gene-disease association for CDG. Allelic disorder Kahrizi syndrome has overlapping features, may not be distinct entity.; Changed publications: 32424323; Changed phenotypes: Congenital disorder of glycosylation, type Iq, MIM#612379, Kahrizi syndrome, MIM# 612713
Mendeliome v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRD5A3 was set to Unknown