Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.103 | INTS11 | Ida Ertmanska Phenotypes for gene: INTS11 were changed from Retinal dystrophy to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.102 | INTS11 | Ida Ertmanska Publications for gene: INTS11 were set to PMID: 41810893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.101 | INTS11 |
Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: INTS11. Tag Q1_26_NHS_review tag was added to gene: INTS11. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.101 | INTS11 | Ida Ertmanska Classified gene: INTS11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.101 | INTS11 | Ida Ertmanska Added comment: Comment on list classification: There are at least 3 unrelated families with individuals harbouring biallelic INTS11 variants affected by retinal disease. Hence, this gene should be updated to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.101 | INTS11 | Ida Ertmanska Gene: ints11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.100 | INTS11 |
Ida Ertmanska changed review comment from: 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.; to: 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.100 | INTS11 | Ida Ertmanska reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 37054711, 41810893; Phenotypes: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.98 | INTS11 |
Siying Lin gene: INTS11 was added gene: INTS11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to PMID: 41810893 Phenotypes for gene: INTS11 were set to Retinal dystrophy Mode of pathogenicity for gene: INTS11 was set to Other Added comment: PMID 41810893 describes 4 patients from 2 unrelated families with a distinct inner retinopathy associated with INTS11-associated neurodevelopmental disorder, supporting this gene as a cause of syndromic IRD. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||