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Fetal anomalies

Gene: ZSCAN10

Amber List (moderate evidence)
ZSCAN10 (zinc finger and SCAN domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000130182
EnsemblGeneIds (GRCh37): ENSG00000130182
ZSCAN10 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

7 from 5 families. Biallelic LOF. Mouse and functional work. No prenatal phenotype in these patients. Ear anomalies, SNHL, ID, dysmorphism, facial asymmetry. 1 had cleft palate, 1 had heart anomaly, 2 had microgenitalia. Potential green gene but perhaps Amber for R21 due to lack of evidence for prenatal onset.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Otofacial neurodevelopmental syndrome, MIM#620910

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Otofacial neurodevelopmental syndrome, OMIM:620910
Tags
gene-checked
Clinvar variants
Variants in ZSCAN10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ZSCAN10.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZSCAN10 was added gene: ZSCAN10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSCAN10 were set to 38386308 Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910