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DDG2P

Gene: ZSCAN10

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ZSCAN10-related neurodevelopmental disorder with oto-facial malformations are moderate, biallelic_autosomal and loss of function (PMID:38386308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03562.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620910).
Created: 12 Mar 2025, 2:08 p.m. | Last Modified: 12 Mar 2025, 2:08 p.m.
Panel Version: 5.48
The DDG2P confidence category for the disease ZSCAN10-related neurodevelopmental disorder with oto-facial malformations is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID: 38386308).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ZSCAN10-related neurodevelopmental disorder with oto-facial malformations

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZSCAN10-related neurodevelopmental disorder with oto-facial malformations
Tags
gene-checked
Clinvar variants
Variants in ZSCAN10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ZSCAN10 was changed from Other to None

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

12 Mar 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ZSCAN10 were changed from ZSCAN10-related neurodevelopmental disorder with oto-facial malformations to ZSCAN10-related neurodevelopmental disorder with oto-facial malformations

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZSCAN10 was added gene: ZSCAN10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 ZSCAN10-related neurodevelopmental disorder with oto-facial malformations Mode of pathogenicity for gene: ZSCAN10 was set to Other