Epileptic encephalopathyGene: ATP6AP2
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
14 Dec 2017, 2:31 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mental retardation, X-linked, syndromic, Hedera type 300423
This gene has been classified as Amber List (Moderate Evidence).
ATP6AP2 was added to Epileptic encephalopathy panel. Sources: Literature
ATP6AP2 was created by Sarah Leigh