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Epileptic encephalopathy

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

1 review

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
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