Retinal disorders
Gene: INTS11EnsemblGeneIds (GRCh38): ENSG00000127054
EnsemblGeneIds (GRCh37): ENSG00000127054
OMIM: 611354, Gene2Phenotype
INTS11 is in 7 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
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.Created: 26 Mar 2026, 3:53 p.m. | Last Modified: 26 Mar 2026, 3:53 p.m.
Panel Version: 8.101
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.Created: 26 Mar 2026, 3:51 p.m. | Last Modified: 26 Mar 2026, 3:52 p.m.
Panel Version: 8.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Publications
Siying Lin (Moorfields Eye Hospital)
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: LiteratureCreated: 12 Mar 2026, 8:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy
Publications
- PMID: 41810893
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
- Tags
- OMIM
- 611354
- Clinvar variants
- Variants in INTS11
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: INTS11 were changed from Retinal dystrophy to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: INTS11 were set to PMID: 41810893
Added Tag, Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_26_promote_green tag was added to gene: INTS11. Tag Q1_26_NHS_review tag was added to gene: INTS11.
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: ints11 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)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