Genomics England
GMS Panels
Panels
Genes and Entities

TMEM222

transmembrane protein 222
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
TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470
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
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Motor delay, Delayed speech and language development, Intellectual disability, Generalized hypotonia, Broad-based gait, Abnormality of nervous system morphology, Seizures, Microcephaly, Behavioral abnormality
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
Motor delay, Delayed speech and language development, Intellectual disability, Generalized hypotonia, Broad-based gait, Abnormality of nervous system morphology, Seizures, Microcephaly, Behavioral abnormality