Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: ATP6AP2

Amber List (moderate evidence)

ATP6AP2 (ATPase H+ transporting accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 6 panels

3 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. 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)

Very few reports of epilepsy so far.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
?Parkinsonism with spasticity X-linked 300911; Mental retardation X-linked syndromic Hedera type 300423

Publications

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a possible G2P. At least 2 variants reported, (c.321C>T, p.D107D) affects normal splicing (PMID 15746149) and c.168+6T-A predicted to affect splicing (PMID 26467484). Seizures, generalised tonic-clonic reported as a clinical feature of this phenotype
Created: 14 Dec 2017, 2:31 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, syndromic, Hedera type 300423

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Literature
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type
Tags
watchlist
OMIM
300556
Clinvar variants
Variants in ATP6AP2
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 ATP6AP2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ATP6AP2.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atp6ap2 has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: ATP6AP2.

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ATP6AP2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ATP6AP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Amber,Literature

4 Apr 2018, Gel status: 2

Created

Sarah Leigh (Genomics England Curator)

ATP6AP2 was created by Sarah Leigh