Likely inborn error of metabolism - targeted testing not possible
Gene: GORAB
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
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
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.
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)
Tag Q2_22_rating tag was added to gene: GORAB. Tag Q2_22_expert_review tag was added to gene: GORAB.
Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Publications for gene: GORAB were set to 26000619
Gene: gorab has been classified as Amber List (Moderate Evidence).
Tag Q2_21_phenotype tag was added to gene: GORAB.
Sarah Leigh: Associated with phenotype in O
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