Congenital Disorders of Glycosylation

Gene: GORAB

Green List (high evidence)

GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 12 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi
enzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079).
Sources: Literature
Created: 22 Jul 2020, 6:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum MIM#231070

Publications

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: gorab has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: gorab has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 0

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

Naomi Baker (Victorian Clinical Genetics Services)

gene: GORAB was added gene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079. Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070 Penetrance for gene: GORAB were set to Complete Review for gene: GORAB was set to GREEN