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Fetal anomalies

Gene: HSF4

Green List (high evidence)
HSF4 (heat shock transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102878
EnsemblGeneIds (GRCh37): ENSG00000102878
OMIM: 602438, Gene2Phenotype
HSF4 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic'. The expanded MOI is based on autosomal recessive cataract cases in PMID:19014451; 24045990; 26490182.
Created: 1 Mar 2022, 3:08 p.m. | Last Modified: 1 Mar 2022, 3:08 p.m.
Panel Version: 1.830
Created: 1 Mar 2022, 3:08 p.m.
Last Modified: 1 Mar 2022, 3:08 p.m.
Panel version: 2.10

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CATARACT MARNER TYPE and Confirmed for CATARACT ZONULAR HSF4-RELATED.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cataract 5, multiple types, OMIM:116800
OMIM
602438
Clinvar variants
Variants in HSF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: HSF4.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to HSF4. Mode of inheritance for gene HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Mar 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: HSF4.

1 Mar 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HSF4 were set to

1 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT ZONULAR HSF4-RELATED for gene: HSF4

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HSF4 was added gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE