Genomics England
GMS Panels
Panels
Genes and Entities

TMEM94

transmembrane protein 94
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316