Cataract
Gene: INTS1

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

2 reviews

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

See OMIM entry for INTS1 for details; cataract is an established part of this phenotype (7 unrelated families described in OMIM).
Created: 6 Apr 2020, 6:41 a.m. | Last Modified: 6 Apr 2020, 6:41 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (618571)

Created: 6 Apr 2020, 6:41 a.m.
Last Modified: 6 Apr 2020, 6:41 a.m.
Panel version: 0.60

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood.
Created: 17 Feb 2020, 2:17 a.m. | Last Modified: 17 Feb 2020, 2:17 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571

Publications

Created: 17 Feb 2020, 2:17 a.m.
Last Modified: 17 Feb 2020, 2:17 a.m.
Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571

OMIM

611345

Clinvar variants

Variants in INTS1

Penetrance

None

Publications

Panels with this gene