1. Genes and Genomic Entities
  2. IRF6

IRF6

interferon regulatory factor 6
OMIM: 607199, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green IRF6 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Popliteal pterygium syndrome 1 119500
Green IRF6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME
  • VAN DER WOUDE SYNDROME
Green IRF6 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • VAN DER WOUDE SYNDROME 119300
    • POPLITEAL PTERYGIUM SYNDROME 119500
    Green IRF6 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Orofacial cleft 6, 608864
    • Cleft Lip with or without Cleft Palate
    • Orofacial Clefting with skeletal features
    • Cleft lip +/- palate- unilateral or bilateral
    • cleft palate
    • lip pits
    • VAN DER WOUDE SYNDROME 1
    • VWS1, POPLITEAL PTERYGIUM SYNDROME
    • PPS
    • Cleft palate
    Red IRF6 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • van der Woude syndrome, 119300
    • Popliteal pterygium syndrome 1, 119500
    • Orofacial cleft 6, 608864
    Green IRF6 in Van der Woude syndrome


    Level 2: Musculoskeletal
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • van der Woude syndrome 1, OMIM:119300
    • van der Woude syndrome 1, MONDO:0007333