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Fetal anomalies

Gene: PITX3

Green List (high evidence)

PITX3 (paired like homeodomain 3)
EnsemblGeneIds (GRCh38): ENSG00000107859
EnsemblGeneIds (GRCh37): ENSG00000107859
OMIM: 602669, Gene2Phenotype
PITX3 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for CATARACT POSTERIOR POLAR TYPE 4, Confirmed for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and Confirmed for CATARACT AUTOSOMAL DOMINANT.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, and CATARACT POSTERIOR POLAR TYPE 4, and listed as Uncertain for CATARACT AUTOSOMAL DOMINANT.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
  • CATARACT POSTERIOR POLAR TYPE 4
  • CATARACT AUTOSOMAL DOMINANT
OMIM
602669
Clinvar variants
Variants in PITX3
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT AUTOSOMAL DOMINANT for gene: PITX3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: PITX3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PITX3 was added gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4