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Fetal anomalies

Gene: ZNF668

Amber List (moderate evidence)

ZNF668 (zinc finger protein 668)
EnsemblGeneIds (GRCh38): ENSG00000167394
EnsemblGeneIds (GRCh37): ENSG00000167394
OMIM: 617103, Gene2Phenotype
ZNF668 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

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.
Sources: Expert list
Created: 28 Feb 2022, 6:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194
OMIM
617103
Clinvar variants
Variants in ZNF668
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194

28 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf668 has been classified as Amber List (Moderate Evidence).

28 Feb 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF668 were set to PMID: 34313816, 26633546

28 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: znf668 has been classified as Amber List (Moderate Evidence).

28 Feb 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: ZNF668 was added gene: ZNF668 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF668 were set to PMID: 34313816, 26633546 Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism Review for gene: ZNF668 was set to AMBER