Transplant Co-Morbidity Superpanel
Gene: GORAB
GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Geroderma osteodysplasticum, MIM# 231070
- OMIM
- 607983
- Clinvar variants
- Variants in GORAB
- Penetrance
- None
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GORAB was added gene: GORAB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070