Deafness_IsolatedAndComplex
Gene: ZSCAN10EnsemblGeneIds (GRCh38): ENSG00000130182
EnsemblGeneIds (GRCh37): ENSG00000130182
ZSCAN10 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otofacial neurodevelopmental syndrome, MIM# 620910
Rylee Peters (Victorian Clinical Genetics Services)
Bi-allelic ZSCAN10 loss-of-function variants were identified in seven affected individuals from five unrelated families with syndromic neurodevelopmental disorder.
Highly consistent phenotypic features include global developmental delay, behavioural abnormalities, and variable facial asymmetry with outer and inner ear malformations leading to profound SNHL.
Facial asymmetry was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations.
Sources: LiteratureCreated: 7 Mar 2024, 12:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic disease MONDO:0002254
Publications
- PMID: 38386308
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Otofacial neurodevelopmental syndrome, MIM# 620910
- Clinvar variants
- Variants in ZSCAN10
- Penetrance
- None
- Publications
-
- PMID: 38386308
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZSCAN10 were changed from Syndromic disease MONDO:0002254 to Otofacial neurodevelopmental syndrome, MIM# 620910
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zscan10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zscan10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rylee Peters (Victorian Clinical Genetics Services)gene: ZSCAN10 was added gene: ZSCAN10 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSCAN10 were set to PMID: 38386308 Phenotypes for gene: ZSCAN10 were set to Syndromic disease MONDO:0002254 Review for gene: ZSCAN10 was set to GREEN