Syndromic Retinopathy
Gene: SRD5A3EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 12 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Retinopathy is a reported feature of the condition in >3 cases.
Sources: Expert listCreated: 25 May 2020, 6:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iq MIM#612379
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 25 families reported, well established gene-disease association for CDG. Allelic disorder Kahrizi syndrome has overlapping features, may not be distinct entity.Created: 1 Sep 2020, 5:53 a.m. | Last Modified: 1 Sep 2020, 5:53 a.m.
Panel Version: 0.4088
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iq, MIM#612379; Kahrizi syndrome, MIM# 612713
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type Iq MIM#612379
- OMIM
- 611715
- Clinvar variants
- Variants in SRD5A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Prepair 1000+
- Lissencephaly and Band Heterotopia
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: srd5a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: srd5a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SRD5A3 was added gene: SRD5A3 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 31638560 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq MIM#612379 Review for gene: SRD5A3 was set to GREEN