Genomics England
GMS Panels
Panels
Genes and Entities

PITX1

paired like homeodomain 1
OMIM: 602149
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL CLUBFOOT 119800, HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
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, Polydactyly
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
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