Radial dysplasia
Gene: PITX1
PITX1 (paired like homeodomain 1)
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 6 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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Liebenberg syndrome
- Radially deviated wrists
- OMIM
- 602149
- Clinvar variants
- Variants in PITX1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
23 May 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
11 May 2017, Gel status: 1
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Oct 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)PITX1 was created by rfoulger
18 Oct 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)PITX1 was added to Radial dysplasiapanel. Sources: Other