1. Genes and Genomic Entities
  2. TMEM63B

TMEM63B

transmembrane protein 63B
Gene2Phenotype

3 panels

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


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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
    • gene-checked
    Green TMEM63B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100062
    Tags
    • gene-checked
    Green TMEM63B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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, MONDO:0100062
    Tags
    • gene-checked