1. Panels
  2. Optic neuropathy
  3. INTS8
STRs in panel
Prev Next
Regions in panel
Prev Next

Optic neuropathy

Gene: INTS8

Red List (low evidence)
INTS8 (integrator complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000164941
EnsemblGeneIds (GRCh37): ENSG00000164941
OMIM: 611351, Gene2Phenotype
INTS8 is in 3 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

PMID: 28542170 describes one Dutch family with 3 affected siblings. All three are compound heterozygous for variants in this gene. Optic atrophy was listed as a phenotype for 2/3 siblings.
Sources: Literature
Created: 11 Dec 2020, 3:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy

Publications

Created: 11 Dec 2020, 3:23 p.m.

Panel version: 2.28

Details

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

History Filter Activity

1 Mar 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: INTS8 were changed from Optic atrophy to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572

11 Dec 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: INTS8 was added gene: INTS8 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS8 were set to 28542170 Phenotypes for gene: INTS8 were set to Optic atrophy Review for gene: INTS8 was set to RED