Congenital disorders of glycosylation
Gene: PIGTComment on list classification: 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 615398Created: 4 May 2017, 12:50 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported in 3 unrelated families, supporting in vitro evidence also available.Created: 19 Dec 2016, 4:27 p.m.
Comment on phenotypes: Also associated with Paroxysmal nocturnal hemoglobinuria 2 615399 (monoallelic and somatic variants)Created: 19 Dec 2016, 4:23 p.m.
Four patients from a single consanguineous familyCreated: 13 Dec 2016, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Publications for PIGT were set to 23636107; 28327575
This gene has been classified as Green List (High Evidence).
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
This gene has been classified as Red List (Low Evidence).
PIGT was added to Congenital disorders of glycosylationpanel. Sources: Literature
PIGT was created by ungardani