Genomics England
GMS Panels
Panels
Genes and Entities

GLRA2

glycine receptor alpha 2
OMIM: 305990
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Global developmental delay, Intellectual disability, Autism, Behavioral abnormality, Seizures, Microcephaly, Abnormality of eye movement
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076, intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772