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  3. SRD5A3
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Structural eye disease

Gene: SRD5A3

Green List (high evidence)
SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 14 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

FC - phenotype includes congenital eye anomalies such as microphthalmia and coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis); 612713

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - phenotype includes congenital eye anomalies such as microphthalmia and coloboma
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis); 612713

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

History Filter Activity

17 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SRD5A3 was added gene: SRD5A3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 20637498; 20700148; 26219881 Phenotypes for gene: SRD5A3 were set to Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713