Fetal anomalies
Gene: PITX1

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:38 p.m. | Last Modified: 1 Feb 2021, 3:38 p.m.

Panel Version: 1.490

Created: 1 Feb 2021, 3:38 p.m.
Last Modified: 1 Feb 2021, 3:38 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Created: 28 Jan 2021, 4:14 p.m. | Last Modified: 28 Jan 2021, 4:14 p.m.

Panel Version: 1.205

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 28 Jan 2021, 4:14 p.m.
Last Modified: 28 Jan 2021, 4:14 p.m.
Panel version: 1.205

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS and Probable for CONGENITAL CLUBFOOT.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as LOF for CONGENITAL CLUBFOOT, and listed as Cis-regulatory or promotor mutation for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Clubfoot, MONDO:0007342
Liebenberg syndrome, OMIM:186550
Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520

OMIM

602149

Clinvar variants

Variants in PITX1

Penetrance

None

Panels with this gene