This Panel is marked as Retired
Epileptic encephalopathy
Gene: ATP6AP2
ATP6AP2 (ATPase H+ transporting accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mental retardation, X-linked, syndromic, Hedera type 300423
- OMIM
- 300556
- Clinvar variants
- Variants in ATP6AP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Dec 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
14 Dec 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ATP6AP2 was added to Epileptic encephalopathy panel. Sources: Literature
14 Dec 2017, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)ATP6AP2 was created by Sarah Leigh