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  3. ALDH7A1
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Miscellaneous Metabolic Disorders

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 13 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Inborn error of lysine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 25 Jan 2021, 2:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jan 2021, 2:13 a.m.

Panel version: 0.45

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 4 Dec 2020, 6:32 a.m. | Last Modified: 4 Dec 2020, 6:32 a.m.
Panel Version: 0.5534

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, pyridoxine-dependent, MIM# 266100

Created: 4 Dec 2020, 6:32 a.m.
Last Modified: 4 Dec 2020, 6:32 a.m.
Panel version: Imported from Mendeliome panel version 0.5534

Eleanor Williams (Genomics England)

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, 11:45 a.m. | Last Modified: 3 Dec 2020, 11:45 a.m.
Panel Version: 0.5525

Publications

Created: 3 Dec 2020, 11:45 a.m.
Last Modified: 3 Dec 2020, 11:45 a.m.
Panel version: Imported from Mendeliome panel version 0.5525

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, pyridoxine-dependent MM#266100
  • disorder of lysine metabolism
Tags
treatable
OMIM
107323
Clinvar variants
Variants in ALDH7A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ALDH7A1.

25 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh7a1 has been classified as Green List (High Evidence).

25 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aldh7a1 has been classified as Green List (High Evidence).

25 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDH7A1 was added gene: ALDH7A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 16491085; 17068770 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism Review for gene: ALDH7A1 was set to GREEN gene: ALDH7A1 was marked as current diagnostic