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  2. Likely inborn error of metabolism
  3. ALDH5A1
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Likely inborn error of metabolism

Gene: ALDH5A1

Green List (high evidence)
ALDH5A1 (aldehyde dehydrogenase 5 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000112294
EnsemblGeneIds (GRCh37): ENSG00000112294
OMIM: 610045, Gene2Phenotype
ALDH5A1 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in numerous families.
Created: 16 Jan 2017, 2:10 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:56 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Created: 6 Jan 2017, 1:56 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency OMIM:271980
  • succinic semialdehyde dehydrogenase deficiency MONDO:0010083
OMIM
610045
Clinvar variants
Variants in ALDH5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALDH5A1 were set to 27604308

1 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH5A1. Source London North GLH was added to ALDH5A1.

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: ALDH5A1 was added gene: ALDH5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 27604308 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency