1. Genes and Genomic Entities
  2. INTS8

INTS8

integrator complex subunit 8
OMIM: 611351, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red INTS8 in Optic neuropathy


Level 2: Ophthalmology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Red INTS8 in Intellectual disability


Level 2: Developmental disorders
Version 10.17
Latest signed off version: v10.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
    Red INTS8 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.1
    Latest signed off version: v2.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572