Severe microcephaly
Gene: HIST1H4CThe 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
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
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
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
Publications for gene: HIST1H4C were set to 28920961
Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975
Tag Q3_21_rating was removed from gene: HIST1H4C.
Source Expert Review Green was added to HIST1H4C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: HIST1H4C.
Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: HIST1H4C.
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