Ehlers Danlos syndrome with a likely monogenic cause
Gene: ALDH18A1
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: ALDH18A1; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Added to panel as can present with clinical features overlapping EDSCreated: 10 May 2017, 4:34 p.m.
Comment on list classification: changed from Red to Green as there is enough evidence in the literature to support the phenotypeCreated: 10 May 2017, 4:34 p.m.
Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
Source NHS GMS was added to ALDH18A1. 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.
ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603
This gene has been classified as Green List (High Evidence).
Publications for ALDH18A1 were set to 24767728;26320891;11092761;18478038;21739576;24913064
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150;Cutis laxa, autosomal dominant 3, 616603;
ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
ALDH18A1 was created by ellenmcdonagh