Skeletal dysplasia
Gene: PIGT
Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems - >3 cases. ?SD - green if SD/red if not. Note added by AW: PIGT yes Clear skeletal features, eg Lam Mol Genet Metaboism 15; Review on behalf of Tracy Lester/Andrew WilkieCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PIGT; Initial rating suggestion: Green List (high evidence)Created: 6 Mar 2019, 11:36 a.m.
Comment 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, 12:49 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and with Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 in G2P. At least three variants reported in Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398Created: 29 Jul 2016, 11:58 a.m.
Comment on phenotypes: At least one variant reported in Paroxysmal nocturnal hemoglobinuria 2 615399Created: 29 Jul 2016, 11:56 a.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 29868109; 28327575
Source NHS GMS was added to PIGT. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for PIGT were set to 28327575
Publications for PIGT were set to 28327575
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Promoted to version 1 9th August 2016
Mode of inheritance for PIGT was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Phenotypes for PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
PIGT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
PIGT was added to Unexplained skeletal dysplasiapanel. Sources:
PIGT was created by sleigh