Genes in panel

Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as reduced levels of proline, ornithine, arginine, and citrulline have been reported in cases with both monoallelic and biallelic ALDH18A1 variants (PMIDs 11092761; 22170564; 26320891).
Created: 2 Jul 2021, 9:26 a.m. | Last Modified: 2 Jul 2021, 9:26 a.m.
Panel Version: 2.147
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162 and MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES. At least 16 variants reported.
Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal dominant 3 OMIM:616603
  • cutis laxa, autosomal dominant 3 MONDO:0014706
  • Cutis laxa, autosomal recessive, type IIIA OMIM:219150
  • ALDH18A1-related de Barsy syndrome MONDO:0009053
  • Spastic paraplegia 9A, autosomal dominant OMIM:601162
  • hereditary spastic paraplegia 9A MONDO:0011006
  • Spastic paraplegia 9B, autosomal recessive OMIM:616586
  • autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Tags
Q3_21_MOI
OMIM
138250
Clinvar variants
Variants in ALDH18A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALDH18A1 were changed from Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndrome MONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702

2 Jul 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALDH18A1 were set to 27604308; 24816252; 29903433

2 Jul 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: ALDH18A1.

1 Jul 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALDH18A1 were set to 27604308; 24816252

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH18A1. Source London North GLH was added to ALDH18A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALDH18A1 was added gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 27604308; 24816252 Phenotypes for gene: ALDH18A1 were set to Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150