Activity
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| Optic neuropathy v5.52 | INTS11 | Ida Ertmanska Classified gene: INTS11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.52 | INTS11 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.52 | INTS11 | Ida Ertmanska Gene: ints11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.51 | INTS11 |
Ida Ertmanska gene: INTS11 was added gene: INTS11 was added to Optic neuropathy. Sources: Literature Q1_26_promote_green tags were added to gene: INTS11. Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 41810893 Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Review for gene: INTS11 was set to GREEN Added comment: 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 |
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