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Inborn errors of metabolism

Gene: SRD5A3

Green List (high evidence)

SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 15 panels

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History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SRD5A3. Source London North GLH was added to SRD5A3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3 Publications for gene SRD5A3 were changed from 27480077 to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SRD5A3 was added gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 27480077 Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379