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Genetic epilepsy syndromes

Gene: ATP5A1

Amber List (moderate evidence)

ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle)
EnsemblGeneIds (GRCh38): ENSG00000152234
EnsemblGeneIds (GRCh37): ENSG00000152234
OMIM: 164360, Gene2Phenotype
ATP5A1 is in 6 panels

5 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: Alison Callaway and John Taylor. Gene Symbol submitted: ATP5F1A. Suggested gene rating: Red.
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)

Red List (low evidence)

Previously called ATP5A1, associated with the OXPHOS deficiency but insufficient info to prove pathogenicity. Seizures mentioned in PMID 23596096, but in the sister of the index case. Only one family described.
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
?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1A
Created: 9 May 2019, 3 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)
Created: 17 Jul 2018, 10:10 a.m.

Arianna Tucci (Genomics England Curator)

I don't know

Described in two unrelated families only. seizures are part of the phenotype. Marked as amber and watchlist tag added
Created: 5 Jul 2018, 10:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22 616045
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
Tags
watchlist new-gene-name
OMIM
164360
Clinvar variants
Variants in ATP5A1
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ATP5A1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ATP5A1.

9 May 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5A1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Described in two unrelated fam

17 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atp5a1 has been classified as Amber List (Moderate Evidence).

17 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228

17 Jul 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ATP5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atp5a1 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ATP5A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ATP5A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ATP5A1 was created by Sarah Leigh