IRF6

interferon regulatory factor 6
OMIM: 607199, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green IRF6 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green IRF6 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Popliteal pterygium syndrome 1MIM#119500
    • van der Woude syndrome MIM#119300

    Green IRF6 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green IRF6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • van der Woude syndrome MIM# 119300

    Green IRF6 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

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

    Green IRF6 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Popliteal pterygium syndrome 1MIM#119500
    • van der Woude syndrome MIM#119300

    Red IRF6 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Popliteal pterygium syndrome 1MIM#119500
    • van der Woude syndrome MIM#119300