Epileptic encephalopathyGene: PIGT
Comment on list classification: Sufficient evidence for this gene to be green on this panel
4 May 2017, 1:22 p.m.
3 new variants in 2 families (PMID 28327575). A total of 6 variants have now been reported, this gene is also a confirmed G2P gene for Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
4 May 2017, 1:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
This gene has been classified as Green List (High Evidence).
PIGT was added to Epileptic encephalopathypanel. Sources: Literature
PIGT was created by sleigh