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SRD5A3

steroid 5 alpha-reductase 3
OMIM: 611715, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SRD5A3 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.30 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713
Green SRD5A3 in Congenital disorders of glycosylation Level 2: Metabolic Version 8.8 Latest signed off version: v8.7 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Congenital Disorder of Glycosylation, Type Iq OMIM:612379 Kahrizi Syndrome OMIM:612713
Green SRD5A3 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.11 Latest signed off version: v8.5 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Kahrizi syndrome.
Green SRD5A3 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713
Red SRD5A3 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.7 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713
Green SRD5A3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379
Green SRD5A3 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379
Green SRD5A3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green SRD5A3 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green SRD5A3 in Intellectual disability Level 2: Developmental disorders Version 11.25 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Iq, 612379Kahrizi syndrome, 612713 CONGENITAL DISORDERS OF GLYCOSYLATION
Green SRD5A3 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Congenital disorder of glycosylation type Iq, 612379 Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713
Green SRD5A3 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713
Green SRD5A3 in Structural eye disease Level 2: Ophthalmology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Red SRD5A3 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH