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Early onset or syndromic epilepsy
Gene: ATP5A1

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 7 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

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

23599390

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

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.

Created: 9 May 2019, 3 p.m.

Panel version: 1.35

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.

Created: 17 Jul 2018, 10:10 a.m.

Panel version: 0.259

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

Created: 5 Jul 2018, 10:11 p.m.

Panel version: 0.184

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
Combined oxidative phosphorylation deficiency 22, OMIM: 616045

Tags

watchlist new-gene-name

OMIM

164360

Clinvar variants

Variants in ATP5A1

Penetrance

None

Panels with this gene

History Filter Activity

30 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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