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Genetic Epilepsy

Gene: INTS8

Red List (low evidence)

INTS8 (integrator complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000164941
EnsemblGeneIds (GRCh37): ENSG00000164941
OMIM: 611351, Gene2Phenotype
INTS8 is in 6 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

No published evidence associating this gene and epilepsy
Sources: Literature
Created: 25 Jan 2024, 12:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572
OMIM
611351
Clinvar variants
Variants in INTS8
Penetrance
None
Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ints8 has been classified as Red List (Low Evidence).

25 Jan 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: INTS8 was added gene: INTS8 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 Review for gene: INTS8 was set to RED