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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
  • Victorian Clinical Genetics Services
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