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  2. Clefting disorders
  3. IRF6
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Clefting disorders

Gene: IRF6

Green List (high evidence)
IRF6 (interferon regulatory factor 6)
EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 8 panels

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Details

Mode of Inheritance
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
OMIM
607199
Clinvar variants
Variants in IRF6
Penetrance
None
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRF6 was added gene: IRF6 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IRF6 were set to 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