Skeletal dysplasia
Gene: PITX1

PITX1 (paired like homeodomain 1)
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 6 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Defects in joint formation and synostoses gp of SD - several mutations reported; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550

Publications

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

Panel version: 1.147

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: PITX1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. At least three variants reported in these phenotypes.
Created: 12 Jul 2016, 11:46 a.m.

Created: 12 Jul 2016, 11:46 a.m.

Panel version: 0.565

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:07 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
Expert list

Phenotypes

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Liebenberg syndrome 186550

OMIM

602149

Clinvar variants

Variants in PITX1

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 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550 for gene: PITX1 Publications for gene PITX1 were changed from 23587911; 23022097 to 30459804; 23022097; 23587911

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PITX1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4