Hyperammonaemia
Gene: ALDH18A1Comment 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.
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
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
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ALDH18A1 were set to 11092761; 24767728
Publications for ALDH18A1 were set to 11092761; 24767728
Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Publications for ALDH18A1 were set to 11092761
This gene has been classified as Red List (Low Evidence).
ALDH18A1 was added to Hyperammonaemiapanel. Sources: Expert Review
ALDH18A1 was created by PeterTheodoreClayton