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  3. ZNF148
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Fetal anomalies

Gene: ZNF148

Amber List (moderate evidence)
ZNF148 (zinc finger protein 148)
EnsemblGeneIds (GRCh38): ENSG00000163848
EnsemblGeneIds (GRCh37): ENSG00000163848
OMIM: 601897, Gene2Phenotype
ZNF148 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Review of 22 affected individuals. Phenotype is characterised by developmental delay , postnatal growth restriction, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. Majority of variants are de novo and cuased by LoF variants in last exon of ZNF148.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260
OMIM
601897
Clinvar variants
Variants in ZNF148
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: ZNF148 was added gene: ZNF148 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF148 were set to 37580113 Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260