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  3. IRF6
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Additional findings_Paediatric

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Rated 'C' by Babyseq for popliteal pterygium syndrome but 'A' for van der Woude syndrome. HIghly penetrant childhood onset disease.
Created: 27 Sep 2020, 11:07 p.m. | Last Modified: 27 Sep 2020, 11:07 p.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
van der Woude syndrome MIM# 119300

Created: 27 Sep 2020, 11:07 p.m.
Last Modified: 27 Sep 2020, 11:07 p.m.
Panel version: 0.69

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • van der Woude syndrome MIM# 119300
OMIM
607199
Clinvar variants
Variants in IRF6
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf6 has been classified as Green List (High Evidence).

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF6 were changed from van der Woude syndrome; Popliteal pterygium syndrome to van der Woude syndrome MIM# 119300

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf6 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to IRF6. Source Expert Review Red was added to IRF6. Added phenotypes Popliteal pterygium syndrome for gene: IRF6 Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF6 were set to van der Woude syndrome