1. Genes and Genomic Entities
  2. DHRSX

DHRSX

dehydrogenase/reductase X-linked
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green DHRSX in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked
    Green DHRSX in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.100
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked
    Green DHRSX in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked
    Amber DHRSX in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked
    Amber DHRSX in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.158
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked
    Green DHRSX in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, OMIM:301133
    Tags
    • Pseudoautosomal region 1
    • gene-checked