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  3. GORAB
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Osteogenesis Imperfecta and Osteoporosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Osteopaenia and recurrent fractures are a feature of this condition.
Sources: Expert list
Created: 27 Jul 2020, midnight

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum, MIM# 231070

Created: 27 Jul 2020, midnight

Panel version: 0.32

History Filter Activity

27 Jul 2020, 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).

27 Jul 2020, 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).

27 Jul 2020, Gel status: 1

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 Osteogenesis Imperfecta. Sources: 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 Review for gene: GORAB was set to GREEN