Ciliopathies
Gene: INTS13EnsemblGeneIds (GRCh38): ENSG00000064102
EnsemblGeneIds (GRCh37): ENSG00000064102
OMIM: 615079, Gene2Phenotype
INTS13 is in 5 panels
1 review
Chirag Patel (Genetic Health Queensland)
2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies.
Sources: LiteratureCreated: 25 Jul 2023, 2:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oral-facial-digital syndrome
Publications
- PMID: 36229431
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
- OMIM
- 615079
- Clinvar variants
- Variants in INTS13
- Penetrance
- None
- Publications
-
- PMID: 36229431
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ints13 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ints13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: INTS13 was added gene: INTS13 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic