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Intellectual disability

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Additional case identified at a NHS Genomic Laboratory Hub (GLH) with compound heterozygous variants in this gene. Phenotypic features include cognitive impairment, ataxia, aplasia/hypoplasia of the cerebellum, hyperreflexia, babinski sign.
Created: 22 May 2023, 2:59 p.m. | Last Modified: 22 May 2023, 2:59 p.m.
Panel Version: 5.150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 May 2023, 2:59 p.m.
Last Modified: 22 May 2023, 2:59 p.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (10 unrelated cases and supporting functional evidence) for this gene to be promoted to green at the next major review.
Created: 26 Apr 2023, 3:09 p.m. | Last Modified: 26 Apr 2023, 3:09 p.m.
Panel Version: 5.69
PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy.

Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 26 Apr 2023, 3:07 p.m. | Last Modified: 26 Apr 2023, 3:11 p.m.
Panel Version: 5.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 26 Apr 2023, 3:07 p.m.
Last Modified: 26 Apr 2023, 3:11 p.m.
Panel version: 5.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • 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

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: INTS11.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to INTS11. Source Expert Review Green was added to INTS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 May 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Complex neurodevelopmental disorder, MONDO:0100038

26 Apr 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: INTS11.

26 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ints11 has been classified as Amber List (Moderate Evidence).

26 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ints11 has been classified as Amber List (Moderate Evidence).

26 Apr 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: INTS11 was added gene: INTS11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711 Phenotypes for gene: INTS11 were set to intellectual disability, MONDO:0001071 Review for gene: INTS11 was set to GREEN