IRF6

interferon regulatory factor 6
OMIM: 607199, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green IRF6 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

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

Green IRF6 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Popliteal pterygium syndrome 1, OMIM #119500

Green IRF6 in Mendeliome


Version 1.2302

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 0.260

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 1.313

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 1.116

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