Early onset or syndromic epilepsy

Gene: ATP6AP2

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

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

• 26467484
• 23595882
• 29127204

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

• 26467484
• 15746149