Severe microcephaly
Gene: HIST1H4CEnsemblGeneIds (GRCh38): ENSG00000197061
EnsemblGeneIds (GRCh37): ENSG00000197061
OMIM: 602827, Gene2Phenotype
HIST1H4C is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible) but not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 20 Sep 2021, 1:57 p.m. | Last Modified: 20 Sep 2021, 1:57 p.m.
Panel Version: 2.242
Added new-gene-name tag, new approved HGNC gene symbol for HIST1H4C is H4C3Created: 20 Sep 2021, 1:55 p.m. | Last Modified: 20 Sep 2021, 1:55 p.m.
Panel Version: 2.241
Zornitza Stark (Australian Genomics)
Two families and a zebrafish model reported initially, another case identified through clinical testing internally.
Sources: Expert listCreated: 1 Sep 2020, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Growth delay, microcephaly and intellectual disability
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975
- Tags
- OMIM
- 602827
- Clinvar variants
- Variants in HIST1H4C
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: HIST1H4C was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HIST1H4C were set to 28920961
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_rating was removed from gene: HIST1H4C.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to HIST1H4C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating tag was added to gene: HIST1H4C.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag new-gene-name tag was added to gene: HIST1H4C.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: HIST1H4C was added gene: HIST1H4C was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIST1H4C were set to 28920961 Phenotypes for gene: HIST1H4C were set to Growth delay, microcephaly and intellectual disability Review for gene: HIST1H4C was set to GREEN gene: HIST1H4C was marked as current diagnostic