INTS8

integrator complex subunit 8
OMIM: 611351, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red INTS8 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Red INTS8 in Growth failure in early childhood Version 3.94 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Red INTS8 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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