Structural eye disease
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Skidmore: corneal clouding; otherwise cataracts and retinopathy reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIIA; 219150
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Skidmore: corneal clouding; otherwise cataracts and retinopathy reportedCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIIA; 219150
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
-
- NHS GMS
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIA, 219150
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- Hyperammonaemia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- 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
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ALDH18A1 was added gene: ALDH18A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 21739576 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150