TMEM63B

transmembrane protein 63B
OMIM: 619952, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TMEM63B in Mendeliome


Version 2.336

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 118, MIM#621250
  • Lung-brain developmental disorder, MIM# 621645

Green TMEM63B in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lung-brain developmental disorder, MIM# 621645

Green TMEM63B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.28

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 118, MIM# 621250

    Green TMEM63B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.53

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 118, MIM# 621250
    • Lung-brain developmental disorder, MIM# 621645