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  3. ZPR1
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Fetal anomalies

Gene: ZPR1

Green List (high evidence)
ZPR1 (ZPR1 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000109917
EnsemblGeneIds (GRCh37): ENSG00000109917
OMIM: 603901, Gene2Phenotype
ZPR1 is in 7 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)

Red gene on R86, R41, R88, R67, R32, R453. Rare AR disorder of Microcephalic primordial dwarfism characterised by pre- and postnatal growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) characterised by microcephaly (-5 to -6.55 SD), congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, optic nerve atrophy or hypoplasia, retinal dystrophy and early mortality. Prenatal USS findings: severe IUGR & cardiomegaly. 6 children from 4 families reported to date. They are all homozygous for the missense variant c.587T>C which is a founder variant in the Middle Rio Grande Valley. Structural modelling suggested destabilising change and functional studies supported inhibition of cell-cycle progression beyond the G1 phase.
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
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321

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
  • Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
OMIM
603901
Clinvar variants
Variants in ZPR1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 for gene: ZPR1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ZPR1 was added gene: ZPR1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal