Early onset or syndromic epilepsy
Gene: ATP5A1
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
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
Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1ACreated: 9 May 2019, 3 p.m.
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.
Described in two unrelated families only. seizures are part of the phenotype. Marked as amber and watchlist tag addedCreated: 5 Jul 2018, 10:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Source Wessex and West Midlands GLH was added to ATP5A1.
Source NHS GMS was added to ATP5A1.
Tag new-gene-name tag was added to gene: ATP5A1.
Arianna Tucci: Described in two unrelated fam
Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
Mode of inheritance for gene: ATP5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to ATP5A1. Panel: Genetic Epilepsy Syndromes
ATP5A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ATP5A1 was created by Sarah Leigh