Arthrogryposis
Gene: IRF6EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 6 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Popliteal pterygium syndrome 1 119500
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Popliteal pterygium syndrome 1 119500
- OMIM
- 607199
- Clinvar variants
- Variants in IRF6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for IRF6 were set to Popliteal pterygium syndrome 1 119500
Set publications
Alice Gardham (Genomics England)Publications for IRF6 were set to 12219090
Upload gene information
Alice Gardham (Genomics England)IRF6 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Ellen McDonagh (Genomics England Curator)IRF6 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IRF6 was added to Arthrogryposispanel. Sources: Expert list