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Skeletal dysplasia

Gene: PIGT

Green List (high evidence)

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 11 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Eleanor Williams (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 29868109; 28327575

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PIGT. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIGT were set to 28327575

4 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIGT were set to 28327575

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PIGT was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

29 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

PIGT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PIGT was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PIGT was created by sleigh