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DDG2P

Gene: HSF4

Green List (high evidence)

HSF4 (heat shock transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102878
EnsemblGeneIds (GRCh37): ENSG00000102878
OMIM: 602438, Gene2Phenotype
HSF4 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: uncertain
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT ZONULAR HSF4-RELATED 116800
  • CATARACT MARNER TYPE 116800
OMIM
602438
Clinvar variants
Variants in HSF4
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments