Severe microcephalyGene: ZNF668
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently no phenotypes associated with this gene in OMIM or Gene2Phenotype. As there are only 2 cases there is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 6 Oct 2021, 3:36 p.m. | Last Modified: 6 Oct 2021, 3:36 p.m.
Panel Version: 3.1332
2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.
Immunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts.
Created: 13 Sep 2021, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism
gene: ZNF668 was added gene: ZNF668 was added to Severe microcephaly. Sources: Expert Review Amber,Literature watchlist tags were added to gene: ZNF668. Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF668 were set to 34313816; 26633546 Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism