DDG2P
Gene: INTS1

INTS1 (integrator complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164880
EnsemblGeneIds (GRCh37): ENSG00000164880
OMIM: 611345, Gene2Phenotype
INTS1 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28542170;31428919;30622326).
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
INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality

OMIM

611345

Clinvar variants

Variants in INTS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: INTS1 was added gene: INTS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 30622326; 31428919 Phenotypes for gene: INTS1 were set to INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality

DDG2P Gene: INTS1