Ehlers Danlos syndromes

Gene: GORAB

Green List (high evidence)

GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 9 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GORAB; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

There seems to be sufficient overlap in terms of the presence of kyphoscoliosis, skin wrinkling and periodontal disease for this to fit within the differential diagnosis for some of the EDS syndromes.
Created: 25 Jul 2017, 12:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
# 231070 GERODERMA OSTEODYSPLASTICUM

Angela Brady (Nhs)

Red List (low evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Red List (low evidence)

This is a skeletal dysplasia gene, not considered to have significant overlap with EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:28 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: After review it was decided to keep this gene Green- as there is enough overlap with EDS phenotypes
Created: 25 Jul 2017, 12:53 p.m.
Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust) June 17, 2016
Created: 10 May 2017, 3:30 p.m.
Added to panel as can present with clinical features overlapping EDS. Geroderma osteodysplasticum is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Created: 10 May 2017, 3:27 p.m.
Comment on list classification: changed from Amber to Green as there is enough evidence in the literature to support the phenotype
Created: 10 May 2017, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum, 231070

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Geroderma osteodysplasticum, OMIM:231070
OMIM
607983
Clinvar variants
Variants in GORAB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GORAB. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GORAB was created by LouiseD

10 May 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

GORAB was added to Ehlers-Danlos syndromespanel. Sources: Other,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen