Fetal anomalies
Gene: H3F3A

H3F3A (H3 histone family member 3A)
EnsemblGeneIds (GRCh38): ENSG00000163041
EnsemblGeneIds (GRCh37): ENSG00000163041
OMIM: 601128, Gene2Phenotype
H3F3A is in 6 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.

Panel Version: 4.192

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

CC abn, skeletal features, abn. head shape/craniosynostosis, can have poor prognosis. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720

Publications

33268356

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for H3F3A is H3-3A
Created: 6 Sep 2019, 3:43 p.m. | Last Modified: 6 Sep 2019, 3:43 p.m.

Panel Version: 0.339

Created: 6 Sep 2019, 3:43 p.m.
Last Modified: 6 Sep 2019, 3:43 p.m.
Panel version: 0.339

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: H3F3A was demoted to Red as it is no longer associated with a disorder in Gene2Phenotype, and has no associated disorder in OMIM.
Created: 29 Apr 2019, 2:52 p.m.

H3F3A was added to the Fetal anomalies panel as Amber based on a 'probable' Disease confidence rating in the original PAGE file and DD-G2P. At the time of panel review, H3F3A is no longer associated with a disorder in DD-Gene2Phenotype (April 2019). No OMIM disorder is associated with H3F3A and there are no publications supporting an obvious gene:disorder association. Therefore demoted H3F3A from Amber to Red.
Created: 25 Apr 2019, 3:29 p.m.

DDG2P rating in original PAGE list: Probable for Craniofacial with neurodevelopment disorders. Mode of inheritance: Monoallelic. Mode of pathogenicity: All missense/in frame.
Created: 11 Dec 2018, 9:05 a.m.

In the original (main) PAGE file, MOP listed as All missense/in frame.
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: 0.225

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
PAGE DD-Gene2Phenotype

Phenotypes

Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720

Tags

new-gene-name

OMIM

601128

Clinvar variants

Variants in H3F3A

Penetrance

None

Publications

33268356

Panels with this gene