Genes in panel

Inborn errors of metabolism

Gene: GORAB

Amber List (moderate evidence)

GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica".
Therefore variants in GORAB are relevant to this panel based on this mechanism.
Created: 8 Feb 2021, 2:13 p.m. | Last Modified: 8 Feb 2021, 2:13 p.m.
Panel Version: 2.59
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Feb 2021, 2:02 p.m. | Last Modified: 8 Feb 2021, 2:02 p.m.
Panel Version: 2.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Geroderma osteodysplasticum OMIM:231070
  • geroderma osteodysplastica MONDO:0009271
Tags
Q2_21_phenotype
OMIM
607983
Clinvar variants
Variants in GORAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079

8 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GORAB were set to 26000619

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gorab has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: GORAB.

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