GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: PITX1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Defects in joint formation and synostoses gp of SD - several mutations reported; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

602149

Clinvar variants

Variants in PITX1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: PITX1 was added gene: PITX1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PITX1 were set to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: PITX1