Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: INTS8

Red List (low evidence)

INTS8 (integrator complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000164941
EnsemblGeneIds (GRCh37): ENSG00000164941
OMIM: 611351, Gene2Phenotype
INTS8 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Three siblings with bi-allelic variants in this gene, ID is part of the phenotype, functional evidence. Consider inclusion as Amber/Red.
Created: 22 Jun 2018, 11:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
611351
Clinvar variants
Variants in INTS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to INTS8.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

INTS8 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

INTS8 was created by Zornitza Stark