Radial dysplasiaGene: PITX1
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.
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
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: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Red List (Low Evidence).
PITX1 was created by rfoulger
PITX1 was added to Radial dysplasiapanel. Sources: Other