Ehlers Danlos syndrome with a likely monogenic cause
Gene: GORAB
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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
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.
Comment on list classification: After review it was decided to keep this gene Green- as there is enough overlap with EDS phenotypesCreated: 25 Jul 2017, 12:53 p.m.
Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust) June 17, 2016Created: 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 phenotypeCreated: 10 May 2017, 3:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum, 231070
Publications
Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
Source NHS GMS was added to GORAB. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GORAB was created by LouiseD
GORAB was added to Ehlers-Danlos syndromespanel. Sources: Other,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen