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Fetal anomalies

Gene: HIST1H4C

Amber List (moderate evidence)
HIST1H4C (histone cluster 1 H4 family member c)
EnsemblGeneIds (GRCh38): ENSG00000197061
EnsemblGeneIds (GRCh37): ENSG00000197061
OMIM: 602827, Gene2Phenotype
HIST1H4C is in 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

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.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Green on severe microcephaly panel - went green in 2022. PMID:35202563 - 6 patients in a histone cohort of 29 cases all with similar features. All individuals, exhibited DD and ID (29/29). Other features incl. hypotonia (10/29), seizures (5/29), autism (5/29), ataxia (4/29). Abnormal growth incl. progressive microcephaly (2/19 prenatal, 20/29 postnatal onset), short stature/FTT (each 11/29). Few had skeletal features (craniosynostosis 2/29, abn. digits 4/29, vertebral 4/29). Some had visual (17/28) or hearing impairment (7/29). Facial features incl. hypertelorism (5/29), upslanting p-f (3/29), broad nasal tip (11/29), thin upper lip (4/29) and teeth anomalies (6/29 - notably gap between central incisors). Cases spcific to HIST1H4C 1/6 prenatal microcephaly, 1/6 craniosynostosis, 2/6 abnormal digits, 2/6 talipes. 5/6 facial dysmorpism. PMID:28920961 - 2 patients withgrowth retardation, microcephaly, facial dysmorphism (upslanting p/f, bifid flat nasal tip, wide mouth), foot ray anonaly. No info on age of onet of growth retardation and microcephaly. Would facial dysmorphism be seen? Amber - more evidence on prenatal phenotype required.
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
Growth delay, microcephaly and intellectual disability

Publications

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 HIST1H4C is H4C3
Created: 6 Sep 2019, 3:30 p.m. | Last Modified: 6 Sep 2019, 3:30 p.m.
Panel Version: 0.339
Created: 6 Sep 2019, 3:30 p.m.
Last Modified: 6 Sep 2019, 3:30 p.m.
Panel version: 0.339

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HIST1H4C
Created: 11 Dec 2018, 9:05 a.m.
In the original 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: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758
Tags
new-gene-name
OMIM
602827
Clinvar variants
Variants in HIST1H4C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HIST1H4C were changed from HIST1H4C; Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to HIST1H4C. Mode of inheritance for gene HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 for gene: HIST1H4C Publications for gene: HIST1H4C were updated from to 28920961; 35202563

6 Sep 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: HIST1H4C.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: HIST1H4C was added gene: HIST1H4C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4C were set to HIST1H4C