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Intellectual disability syndromic and non-syndromic

Gene: GORAB

Amber List (moderate 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)

I don't know

Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.
Created: 6 Feb 2020, 8:21 p.m. | Last Modified: 6 Feb 2020, 8:21 p.m.
Panel Version: 0.2001
ID is a reported feature.
Created: 4 Dec 2019, 7:21 p.m. | Last Modified: 4 Dec 2019, 7:21 p.m.
Panel Version: 0.317

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum, MIM#231070

History Filter Activity

6 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gorab has been classified as Amber List (Moderate Evidence).

4 Dec 2019, 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).

4 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GORAB was added gene: GORAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GORAB was set to Unknown