Ehlers Danlos syndrome with a likely monogenic cause
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
5 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
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.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIA, OMIM:219150
- Cutis laxa, autosomal dominant 3, OMIM:616603
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Hyperammonaemia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ALDH18A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Upload gene information
Louise Daugherty (Genomics England Curator)ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for ALDH18A1 were set to 24767728;26320891;11092761;18478038;21739576;24913064
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150;Cutis laxa, autosomal dominant 3, 616603;
Added New Source
Ellen McDonagh (Genomics England Curator)ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ALDH18A1 was created by ellenmcdonagh