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DDG2P

Gene: INTS11

Green List (high evidence)
INTS11 (integrator complex subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000127054
EnsemblGeneIds (GRCh37): ENSG00000127054
OMIM: 611354, Gene2Phenotype
INTS11 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 37054711, 37980560). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03549.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 37980560;37054711).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0957386; INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities; OMIM:620428.0

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
OMIM
611354
Clinvar variants
Variants in INTS11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: INTS11 was changed from Other to None

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: INTS11 was added gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 37980560 Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Mode of pathogenicity for gene: INTS11 was set to Other