Early onset or syndromic epilepsy
Gene: ATP6AP2
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
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
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 phenotypeCreated: 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
Source Wessex and West Midlands GLH was added to ATP6AP2.
Source NHS GMS was added to ATP6AP2.
Sarah Leigh: Associated with phenotype in O
Gene: atp6ap2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: ATP6AP2.
Victorian Clinical Genetics Services was added to ATP6AP2. Panel: Genetic Epilepsy Syndromes
ATP6AP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Amber,Literature
ATP6AP2 was created by Sarah Leigh