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Fetal anomalies

Gene: PITX1

Green List (high evidence)

PITX1 (paired like homeodomain 1)
EnsemblGeneIds (GRCh38): ENSG00000069011
EnsemblGeneIds (GRCh37): ENSG00000069011
OMIM: 602149, Gene2Phenotype
PITX1 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly - 5 families reported with missense variants or CNV deletions in PITX1. Pitx1 +/- mice showed clubfoot-like abnormalities. Suitable for fetal anomalies panel.
Created: 14 Jan 2022, 3:12 a.m. | Last Modified: 14 Jan 2022, 3:12 a.m.
Panel Version: 0.2183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM #119800; Liebenberg syndrome , OMIM #186550

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
  • Clubfoot, MONDO:0007342
  • Liebenberg syndrome, OMIM:186550
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
OMIM
602149
Clinvar variants
Variants in PITX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitx1 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PITX1 were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PITX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pitx1 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PITX1 was added gene: PITX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800