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  3. GORAB
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Fetal anomalies

Gene: GORAB

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

2 reviews

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

Created: 22 Jul 2020, 6:36 a.m.

Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.130

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Joint laxity including hip dislocation; microcephaly reported.
Created: 6 Feb 2020, 8:21 p.m. | Last Modified: 14 Jan 2022, 5:30 a.m.
Panel Version: 0.2205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum, MIM#231070

Created: 4 Dec 2019, 7:21 p.m.
Last Modified: 14 Jan 2022, 5:30 a.m.
Panel version: 0.2205

History Filter Activity

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum MIM#231070

14 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GORAB were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GORAB was added gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum