Hyperammonaemia
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with Cutis laxa, autosomal recessive, type IIIA (219150) in OMIM, not in G2P / DD. At least 6 homozygous variants reported. Hyperammonaemia only reported in two siblings (PMID 11092761;24767728)Created: 22 Nov 2016, 9:35 a.m. | Last Modified: 1 Jul 2021, 1:59 p.m.
Panel Version: 1.8
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health). Also associated with Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162 and Spastic paraplegia 9B, autosomal recessive 616586.Created: 22 Nov 2016, 9:30 a.m.
Comment on publications: 24767728 reviews reports of Cutis laxa, autosomal recessive, type IIIA and reviews biochemical features in each case. Hyperammonaemia only reported in two casesCreated: 3 Nov 2016, 4:36 p.m.
Peter Clayton (UCL Institute of Child Health)
Mild hyperammonaemia onlyCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Delta-1-pyrroline 5 carboxylic acid synthetase deficiency
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
- ALDH18A1-related de Barsy syndrome MONDO:0009053
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150; ALDH18A1-related de Barsy syndrome MONDO:0009053
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ALDH18A1 were set to 11092761; 24767728
Set publications
Sarah Leigh (Genomics England Curator)Publications for ALDH18A1 were set to 11092761; 24767728
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Set publications
Sarah Leigh (Genomics England Curator)Publications for ALDH18A1 were set to 11092761
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Peter Clayton (UCL Institute of Child Health)ALDH18A1 was added to Hyperammonaemiapanel. Sources: Expert Review
Created
Peter Clayton (UCL Institute of Child Health)ALDH18A1 was created by PeterTheodoreClayton