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 5.54
Latest signed off version: v5.0 (30 Apr 2025)

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 9.372
Latest signed off version: v9.0 (30 Apr 2025)

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 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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