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Arthrogryposis

Gene: IRF6

Green List (high evidence)

IRF6 (interferon regulatory factor 6)
EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

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

16 Jan 2017, Gel status: 4

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.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for IRF6 were set to Popliteal pterygium syndrome 1 119500

5 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for IRF6 were set to 12219090

5 Jan 2017, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

IRF6 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IRF6 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IRF6 was added to Arthrogryposispanel. Sources: Expert list