SRD5A3

steroid 5 alpha-reductase 3
OMIM: 611715, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red SRD5A3 in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Red Phenotypes Congenital disorder of glycosylation, type Iq (MIM#612379)
Red SRD5A3 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Congenital disorder of glycosylation, type Iq (MIM#612379)
Green SRD5A3 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Kahrizi syndrome, MIM# 612713
Green SRD5A3 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713
Amber SRD5A3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379
Green SRD5A3 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert list Expert Review Green Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq MIM#612379
Green SRD5A3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq, 612379 (3)
Green SRD5A3 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq MIM#612379 Kahrizi syndrome#612713 SRD5A3-congenital disorder of glycosylation (MONDO:0012885)