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Severe microcephaly

Gene: HIST1H4C

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two families and a zebrafish model reported initially, another case identified through clinical testing internally.
Sources: Expert list
Created: 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
Phenotypes
  • Growth delay, microcephaly and intellectual disability
OMIM
602827
Clinvar variants
Variants in HIST1H4C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 0

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