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Severe microcephaly

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

2 reviews

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 H4C3
Created: 20 Sep 2021, 1:55 p.m. | Last Modified: 20 Sep 2021, 1:55 p.m.
Panel Version: 2.241

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
  • Expert Review Amber
Phenotypes
  • Growth delay, microcephaly and intellectual disability
Tags
new-gene-name Q3_21_rating
OMIM
602827
Clinvar variants
Variants in HIST1H4C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: HIST1H4C.

20 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hist1h4c has been classified as Amber List (Moderate Evidence).

20 Sep 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

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

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