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Genetic epilepsy syndromes

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 7 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Biochem assay for alpha-aminoadipic semialdehyde may be a pathognomonic marker. Posisble dutch founder mutation (p.(Glu399Gln)), PubMed: 17721876. AR pyridoxine-dependent epilepsy. Mlls et al, 2006 - hom or compound het mutations in 8 unrelated families- Been et al, 2005 Bok et al, 2007 & Salomons et al, 2007 - 7 patients from 4 apparently unrelated families - hom variant E399Q. 123 reported mutations on HGMD pro - many missense, nonesense, splicing, dels/ins. Functioal characterisation has been done - Coulter-Mackie et al, 2012 & Korasick et al, 2017.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, pyridoxine-dependent, 266100

Publications

Ellen McDonagh (Genomics England Curator)

Added the 'treatable' tag as seizures caused by variants in this gene are treatable by daily pyridoxine supplementation (OMIM).
Created: 10 Dec 2018, 5:17 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Created: 9 Apr 2018, 1:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, pyridoxine-dependent 266100

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Tags
treatable
OMIM
107323
Clinvar variants
Variants in ALDH7A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ALDH7A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALDH7A1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

10 Dec 2018, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: ALDH7A1.

8 Nov 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent 266100

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ALDH7A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ALDH7A1. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ALDH7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

9 Apr 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALDH7A1 were set to 16491085; 17068770; 17721876

9 Apr 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALDH7A1 were set to 16491085; 17068770

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALDH7A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ALDH7A1 was created by Sarah Leigh