Optic neuropathy

Gene: INTS11

Green List (high evidence)

Comment on list classification: There are 5 individuals from 4 families reported with biallelic INTS11 variants and optic atrophy. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal.

Created: 26 Mar 2026, 3:57 p.m. | Last Modified: 26 Mar 2026, 3:57 p.m.

Panel Version: 5.52

PMID: 41810893 Lin et al., 2026
Report of four affected individuals with biallelic INTS11 variants from two unrelated families.
Retinal phenotype: mild optic disc pallor; severe thinning of the inner retinal layers with preserved outer retinal layers, generalized rod and cone system dysfunction localized to the inner retina or post-phototransduction.
Individuals A-1 and A-2 were compound heterozygous for missense INTS11 variants c.34G > A; p.(Gly12Ser) and c.1219C > T; p.(Pro407Ser), as previously described. Novel compound het INTS11 variants (c.721G > A, p.(Ala241Thr) and c.983T > A, p.(Leu328Gln)) were identified in individuals B-3 and B-4.

PMID: 37054711 Tepe et al., 2023
15 individuals from 10 unrelated families with bi-allelic variants in INTS11 who present with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy. 5 patients were noted to have optic atrophy, and 2 had retinal dystrophy. Less specific ocular findings included myopia, astigmatism, and strabismus.
Sources: Literature

Created: 26 Mar 2026, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428

Publications

• 37054711
• 41810893