Genomics England
GMS Panels
Panels
Genes and Entities

TMEM63B

transmembrane protein 63B
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TMEM63B-related developmental and epileptic encephalopathy with anaemia
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 118, OMIM:621250
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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