Genes in panel

Inborn errors of metabolism

Gene: ALDH7A1

Green List (high evidence)

ALDH7A1 (aldehyde dehydrogenase 7 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000164904
EnsemblGeneIds (GRCh37): ENSG00000164904
OMIM: 107323, Gene2Phenotype
ALDH7A1 is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

PMID: 32969477 - Al-Shekaili et al 2020 - describe the biochemical characterization of a Aldh7a1-KO mouse model fed low lysine/high pyridoxine or high lysine/low pyridoxine diets and the effects on seizures
Created: 3 Dec 2020, 11:47 a.m. | Last Modified: 3 Dec 2020, 11:47 a.m.
Panel Version: 2.33


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 9 variants reported.
Created: 12 Jan 2017, 10:31 a.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

Intellectual disability


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Epilepsy, pyridoxine-dependent
Clinvar variants
Variants in ALDH7A1
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH7A1. Source London North GLH was added to ALDH7A1.

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: ALDH7A1 was added gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 27604308 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent