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Genetic epilepsy syndromes

Gene: H3F3B

Red List (low evidence)

H3F3B (H3 histone family member 3B)
EnsemblGeneIds (GRCh38): ENSG00000132475
EnsemblGeneIds (GRCh37): ENSG00000132475
OMIM: 601058, Gene2Phenotype
H3F3B is in 2 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for H3F3B is H3-3B
Created: 6 Sep 2019, 3:52 p.m. | Last Modified: 6 Sep 2019, 3:52 p.m.
Panel Version: 1.263

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

According to panel app not reported in the lit - 2 SNVs in clinvar submitted as VUS's - both individuals had dev delay and seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
schizophrenia

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on expert reviewers' comments
Created: 6 Dec 2018, 2:46 p.m.

Konstantinos Varvagiannis (Other)

Red List (low evidence)

I cannot find any published evidence either. Only two SNVs in ClinVar submitted as variants of uncertain significance. Both individuals had DD/ID and seizures :
https://www.ncbi.nlm.nih.gov/clinvar/variation/521247/#supporting-observations
https://www.ncbi.nlm.nih.gov/clinvar/variation/521569/#supporting-observations .

The literature cited in these submissions is very general.
Created: 15 Aug 2018, 9:10 a.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I can't find published evidence to link this gene with epilepsy.
Created: 15 Aug 2018, 12:28 a.m.

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
new-gene-name
OMIM
601058
Clinvar variants
Variants in H3F3B
Penetrance
None
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: H3F3B.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to H3F3B.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to H3F3B.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: I can't find published evidenc

6 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: h3f3b has been classified as Red List (Low Evidence).

6 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: h3f3b has been classified as Red List (Low Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to H3F3B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

H3F3B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

H3F3B was created by Sarah Leigh