Genomics England
GMS Panels
Panels
Genes and Entities

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma
OMIM: 300161
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE, MRXSBRK
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Syndromic ID with severe microcephaly
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEHMO syndrome, 300148
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEHMO syndrome, OMIM:300148, MEHMO syndrome, MONDO:0010258
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, syndromic, Borck type, 300987
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 4.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
diabetes mellitus (disease), MONDO:0005015, MEHMO syndrome, OMIM:300148
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEHMO syndrome, OMIM:300148