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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
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 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316, Global developmental delay, Intellectual disability, Abnormal heart morphology, Abnormality of head or neck