Ehlers Danlos syndrome with a likely monogenic cause

Gene: GORAB

Green List (high evidence)

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.

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

Red List (low evidence)

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.

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

• 18997784
• 19681135