Genomics England

SRD5A3

steroid 5 alpha-reductase 3

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kahrizi syndrome.
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital Disorder of Glycosylation, Type Iq OMIM:612379, Kahrizi Syndrome OMIM:612713
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation type Iq, 612379, Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iq, 612379Kahrizi syndrome, 612713, CONGENITAL DISORDERS OF GLYCOSYLATION
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Iq 612379
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713