Clefting
Gene: IRF6EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 6 panels
3 reviews
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
VAN DER WOUDE SYNDROME 1; VWS1, POPLITEAL PTERYGIUM SYNDROME; PPS
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green gene rated green by expert reviewer.Created: 16 Dec 2016, 2:51 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
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
Details
- Mode of Inheritance
- 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
- OMIM
- 607199
- Clinvar variants
- Variants in IRF6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)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 promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IRF6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Olivia Niblock (Genomics England Curator)IRF6 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
Added New Source
Olivia Niblock (Genomics England Curator)IRF6 was added to Cleftingpanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)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
Created
Olivia Niblock (Genomics England Curator)IRF6 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)IRF6 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen