DHRSX:Ensemblv90

dehydrogenase/reductase X-linked
ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DHRSX in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.80

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.304

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133

    Green DHRSX in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type 1DD, MIM# 301133