Genomics England
GMS Panels
Panels
Genes and Entities

GORAB

golgin, RAB6 interacting
OMIM: 607983
PanelMode of inheritanceDetails
7 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum OMIM:231070, geroderma osteodysplastica MONDO:0009271
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum, OMIM:231070
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum OMIM:231070, geroderma osteodysplastica MONDO:0009271
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
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 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum 231070