Congenital Disorders of Glycosylation
Gene: GORABEnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 12 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
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: LiteratureCreated: 22 Jul 2020, 6:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum MIM#231070
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Geroderma osteodysplasticum MIM#231070
- OMIM
- 607983
- Clinvar variants
- Variants in GORAB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Cutis Laxa
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: gorab has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: gorab has been classified as Green List (High Evidence).
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