Ehlers Danlos syndromes

Gene: ALDH18A1

Green List (high evidence)

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels

5 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: ALDH18A1; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Added to panel as can present with clinical features overlapping EDS
Created: 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 phenotype
Created: 10 May 2017, 4:34 p.m.

History Filter Activity

13 Mar 2019, Gel status: 3

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)

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.

10 May 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

10 May 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2017, Gel status: 4

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

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: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ALDH18A1 were set to 24767728;26320891;11092761;18478038;21739576;24913064

10 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2017, Gel status: 1

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;

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was created by ellenmcdonagh