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Fetal anomalies

Gene: ZNF668

Green List (high evidence)
ZNF668 (zinc finger protein 668)
EnsemblGeneIds (GRCh38): ENSG00000167394
EnsemblGeneIds (GRCh37): ENSG00000167394
OMIM: 617103, Gene2Phenotype
ZNF668 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Amber gene on R88, R29, R453. AR rare DNA damage repair neurodevelopmental disorder associated with biallelic truncating variants in ZNF668 characterised by feeding difficulties and severe growth delay with microcephaly (-7.2 SD) and loss of subcutaneous fat, hypotonia, global developmental delay, very large, simple ears, deep-set eyes, large nose, micrognathia, broad thumbs and toes, chorioretinal coloboma, atrial septal defect, polysplenia, hepatomegaly, hydronephrosis, and osteopenia. Brain malformations include brain atrophy, thin corpus callosum, hypomyelination, and malformations of cortical development, including abnormal gyration and sulcation and nodular heterotopia. 3 patients from 2 unrelated consanguineous families from the Middle East reported. Only one sib (died in early childhood) available for molecular testing in one family where a previous similarly affecetd sib died with no DNA stored. Functional data with DNA damage repair defect (impaired RAD51 foci formation) observed in fibroblasts of affected individuals.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

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

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 for gene: ZNF668

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ZNF668 was added gene: ZNF668 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal