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Inborn errors of metabolism

Gene: GORAB

Red List (low evidence)

GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Geroderma osteodysplasticum
OMIM
607983
Clinvar variants
Variants in GORAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GORAB was added gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 26000619 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum