TMEM63B

transmembrane protein 63B
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TMEM63B in DDG2P


Version 7.7
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM63B-related developmental and epileptic encephalopathy with anaemia
    Tags
    • de novo
    Green TMEM63B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.23
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 118, OMIM:621250
    Green TMEM63B in Intellectual disability


    Level 2: Developmental disorders
    Version 10.46
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 118, OMIM:621250
    • developmental and epileptic encephalopathy, MONDO:0100062
    • autosomal-recessive TMEM63B-related syndromic surfactant dysfunction disorder
    • lung disorder, MONDO:0005275
    Tags
    • Q2_26_MOI
    Amber TMEM63B in Childhood interstitial lung disease


    Level 2: Respiratory
    Version 1.6
    Latest signed off version: v1.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • autosomal-recessive TMEM63B-related syndromic surfactant dysfunction disorder
    • lung disorder, MONDO:0005275
    Tags
    • Q2_26_promote_green