Likely inborn error of metabolism
Gene: GORAB

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.

Panel Version: 3.6

Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

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

Created: 8 Feb 2021, 2:02 p.m.
Last Modified: 8 Feb 2021, 2:02 p.m.
Panel version: 2.59

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Geroderma osteodysplasticum OMIM:231070
geroderma osteodysplastica MONDO:0009271

OMIM

607983

Clinvar variants

Variants in GORAB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: GORAB. Tag Q2_22_rating was removed from gene: GORAB. Tag Q2_22_expert_review was removed from gene: GORAB.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GORAB. Source Expert Review Green was added to GORAB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2022, Gel status: 2