Intellectual disability
Gene: ZSCAN10

ZSCAN10 (zinc finger and SCAN domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000130182
EnsemblGeneIds (GRCh37): ENSG00000130182
ZSCAN10 is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic ZSCAN10 variants and syndromic intellectual disability with motor developmental delay. Hence, this gene should be promoted to Green on Intellectual disability with MOI set to BIALLELIC, autosomal or pseudoautosomal.
Created: 4 Aug 2026, 2:24 p.m. | Last Modified: 4 Aug 2026, 2:24 p.m.

Panel Version: 10.87

PMID: 38386308 Laugwitz et al., 2024
Report of 7 individuals from 5 unrelated families (3 consanguineous) with biallelic ZSCAN10 variants and a neurodevelopmental disorder with facial dysmorphism. All 7 probands harboured biallelic nonsense variants. Cognitive impairment was mild (1), moderate (3) or severe (3) in these patients, with moderate to profound delay of motor development. 4/7 probands also had a hearing impairment (1 with unilateral deafness only).
Other less consistent features included microgenitalia (2/7), heart defects (1/7) and cleft palate (1/7). 3 individuals had unspecified vision impairment.

PMID: 40605417 Alfalah et al., 2025
Research letter describing a male patient from a consanguineous Saudi family with mild cognitive impairment, moderate motor delay, ADHD, left SNHL, and vision impairment (myopia the vision is 20/40 bilateral ptosis). He had a clinical diagnosis of Goldenhar syndrome. He harboured a homozygous ZSCAN10 variant NM_032805.3: c.598_602del, p.Pro200Lysfs*48. Het parents unaffected.
Sources: Literature
Created: 4 Aug 2026, 2:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Otofacial neurodevelopmental syndrome, OMIM:620910

Publications

Created: 4 Aug 2026, 2:22 p.m.

Panel version: 10.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Otofacial neurodevelopmental syndrome, OMIM:620910

Tags

Q3_26_promote_green

Clinvar variants

Variants in ZSCAN10

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Aug 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: zscan10 has been classified as Amber List (Moderate Evidence).

4 Aug 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: ZSCAN10 was added gene: ZSCAN10 was added to Intellectual disability. Sources: Literature Q3_26_promote_green tags were added to gene: ZSCAN10. Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSCAN10 were set to 38386308; 40605417 Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910 Review for gene: ZSCAN10 was set to GREEN

Intellectual disability Gene: ZSCAN10