Genomics England
GMS Panels
Panels
Genes and Entities

EFTUD2

elongation factor Tu GTP binding domain containing 2
OMIM: 603892
PanelMode of inheritanceDetails
8 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MFDGA
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536
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 6.9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, 610536, MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY, MFDM
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536