Skeletal dysplasia

Gene: PIGT

Green List (high evidence)

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 Wilkie

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Publications

• 28327575
• 29868109

I don't know

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 615398

Created: 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 615398

Created: 29 Jul 2016, 11:58 a.m.

Comment on phenotypes: At least one variant reported in Paroxysmal nocturnal hemoglobinuria 2 615399

Created: 29 Jul 2016, 11:56 a.m.

Green List (high evidence)

Tier 3

Created: 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