Genomics England
GMS Panels
Panels
Genes and Entities

MEGF8

multiple EGF like domains 8
OMIM: 604267
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARPENTER SYNDROME 201000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARPENTER SYNDROME
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Carpenter syndrome 2 614976
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 4.177
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614976, Carpenter 2 614976
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 2 614976