Genomics England
GMS Panels
Panels
Genes and Entities

GORAB

golgin, RAB6 interacting
OMIM: 607983
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum, 231070
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, congenital wrinkly skin, prematurely aged face, extremely short stature, osteoporosis leading to recurrent fractures
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum 231070