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Fetal anomalies

Gene: PITX1

Amber List (moderate evidence)

PITX1 (paired like homeodomain 1)
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 8 panels

1 review

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL CLUBFOOT
  • HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
OMIM
602149
Clinvar variants
Variants in PITX1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CONGENITAL CLUBFOOT for gene: PITX1

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PITX1 was added gene: PITX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS