Corneal abnormalities
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group and unsure whether this should be included as green.Created: 22 Feb 2017, 10:40 a.m.
Comment on list classification: Expert review green and more than 3 cases/family reports for both the recessive and dominant.Created: 15 Feb 2017, 5:59 p.m.
Comment on mode of inheritance: Cutis laxa, autosomal recessive, type IIIA does include Corneal opacities. Mode of inheritance on the cataracts panel version 1.3 is 'both'.Created: 15 Feb 2017, 5:57 p.m.
Comment on mode of inheritance: Cutis laxa, autosomal recessive, type IIIA does include Corneal opacities. Mode of inheritance on the cataracts panel version 1.3 is 'both'.Created: 15 Feb 2017, 5:57 p.m.
Chris Campbell (NHS)
Dominant mutations in ALDH18A1 cause Cutis laxa, autosomal dominant 3. Dominant and recessive mutation sin this gene have been reported to cause Spastic paraplegia 9A (AD) and Spastic paraplegia 9B (AR)Created: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cutis laxa, corneal clouding, and mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- GDL Corneal Abnormalities panel
- Phenotypes
-
- cutis laxa, corneal clouding, and mental retardation
- Cutis laxa, autosomal dominant 3 616603
- Cutis laxa, autosomal recessive, type IIIA 219150
- 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
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALDH18A1 were set to cutis laxa, corneal clouding, and mental retardation; Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ALDH18A1 were set to 18388779
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ALDH18A1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
Created
Ellen McDonagh (Genomics England Curator)ALDH18A1 was created by ellenmcdonagh