SRD5A3

steroid 5 alpha-reductase 3
OMIM: 611715, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red SRD5A3 in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Congenital disorder of glycosylation, type Iq (MIM#612379)
Red SRD5A3 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type Iq (MIM#612379)
Green SRD5A3 in Cataract Level 2: Ophthalmological disorders Version 0.375	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SRD5A3 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713
Green SRD5A3 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services 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 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379
Green SRD5A3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Iq, MIM#612379 Kahrizi syndrome, MIM# 612713
Green SRD5A3 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Congenital disorder of glycosylation type Iq, 612379
Green SRD5A3 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	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
Green SRD5A3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Iq, 612379 (3)
Green SRD5A3 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713
Green SRD5A3 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Iq MIM#612379 Kahrizi syndrome#612713 SRD5A3-congenital disorder of glycosylation (MONDO:0012885)