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Limb disorders

Gene: PITX1

Green List (high evidence)

PITX1 (paired like homeodomain 1)
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 7 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Liebenberg syndrome is not associated with radial dysplasia, as appropriate for this panel. It causes radial metaphyseal abnormalities and elbow / wrist positioning anomalies. These are not considered in keeping with the scope of this panel.
Created: 11 May 2017, 12:52 p.m.

Rebecca Foulger (Genomics England curator)

The mutations that cause Liebenberg syndrome are thought to relocate enhancers that normally promote the activity of genes involved in upper limb development to be near the PITX1 gene, where they can promote its activity. Alternatively, the mutations may remove repressors that normally turn off the PITX1 gene during upper limb development. As a result, the PITX1 gene is abnormally active during development of the upper limbs.
Created: 18 Oct 2016, 1:24 p.m.

Mode of pathogenicity
Other

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
  • Liebenberg syndrome 186550
  • Polydactyly
OMIM
602149
Clinvar variants
Variants in PITX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PITX1. Panel: Limb disorders Phenotypes for gene PITX1 were set to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert list was added to PITX1. Panel: Limb disorders Emory Genetics Laboratory was added to PITX1. Panel: Limb disorders Expert Review Green was added to PITX1. Panel: Limb disorders UKGTN was added to PITX1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to PITX1. Panel: Limb disorders Model of inheritance for gene PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene PITX1 was set to ['23587911', '23022097']

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to PITX1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PITX1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PITX1 was created by Ellen McDonagh