Clefting
Gene: IRF6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
VAN DER WOUDE SYNDROME 1; VWS1, POPLITEAL PTERYGIUM SYNDROME; PPS
Comment on list classification: Green gene rated green by expert reviewer.Created: 16 Dec 2016, 2:51 p.m.
Nonsyndromic clefting and Van der Woude syndrome may be causedCreated: 8 Dec 2016, 9:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft lip +/- palate- unilateral or bilateral; cleft palate; lip pits
Variants in this GENE are reported as part of current diagnostic practice
Victorian Clinical Genetics Services was added to IRF6. Panel: Clefting Phenotypes for gene IRF6 were set to 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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Model of inheritance for gene IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for IRF6 were set to 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
Phenotypes for IRF6 were set to 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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IRF6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IRF6 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
IRF6 was added to Cleftingpanel. Source: UKGTN
IRF6 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
IRF6 was created by oniblock
IRF6 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen