Limb disorders
Gene: PITX1Comment 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.
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
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.
Tier 2Created: 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
Ana Beleza: Tier 2
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
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']
London South East RGC GSTT was added to PITX1. Panel: Limb disorders
PITX1 was added to Limb disorders panel. Sources: Viapath
PITX1 was created by Ellen McDonagh