Hyperammonaemia

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

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 24767728)
Created: 22 Nov 2016, 9:35 a.m.
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 cases
Created: 3 Nov 2016, 4:36 p.m.

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mild hyperammonaemia only
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Delta-1-pyrroline 5 carboxylic acid synthetase deficiency

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

22 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALDH18A1 were set to 11092761; 24767728

3 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALDH18A1 were set to 11092761; 24767728

3 Nov 2016, Gel status: 1

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

3 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALDH18A1 were set to 11092761

18 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Nov 2015, Gel status: 0

Added New Source

Peter Clayton (UCL Institute of Child Health)

ALDH18A1 was added to Hyperammonaemiapanel. Sources: Expert Review

5 Nov 2015, Gel status: 0

Created

Peter Clayton (UCL Institute of Child Health)

ALDH18A1 was created by PeterTheodoreClayton