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Mendeliome

Gene: INTS11

Green List (high evidence)

INTS11 (integrator complex subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000127054
EnsemblGeneIds (GRCh37): ENSG00000127054
OMIM: 611354, Gene2Phenotype
INTS11 is in 3 panels

2 reviews

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 with global developmental and language delay, intellectual disability, 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.
Created: 4 May 2023, 2:26 a.m. | Last Modified: 4 May 2023, 2:36 a.m.
Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Global developmental delay; launguage delay; intellectual disability; impaired motor development; brain atrophy

Publications

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

Comment on gene rating: This gene should be rated GREEN in Intellectual disability panel as it has 10 unrelated cases and functional evidence in support of this association.

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.
Sources: Literature
Created: 26 Apr 2023, 3:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Details

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

History Filter Activity

1 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ints11 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: INTS11 were changed from to intellectual disability, MONDO:0001071

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ints11 has been classified as Green List (High Evidence).

26 Apr 2023, Gel status: 0

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

Achchuthan Shanmugasundram (Genomics England)

gene: INTS11 was added gene: INTS11 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711 Review for gene: INTS11 was set to GREEN