1. Genes and Genomic Entities
  2. PITX1

PITX1

paired like homeodomain 1
OMIM: 602149, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PITX1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Liebenberg syndrome
  • Radially deviated wrists
Red PITX1 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Green PITX1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
    • Liebenberg syndrome 186550
    • Polydactyly
    Green PITX1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.35
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
    • Liebenberg syndrome 186550
    Green PITX1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.141
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    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 PITX1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CONGENITAL CLUBFOOT 119800
    • HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS