Bilateral congenital or childhood onset cataracts
Gene: INTS1

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

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Created: 11 Dec 2020, 3 p.m. | Last Modified: 11 Dec 2020, 3 p.m.

Panel Version: 2.29

Created: 11 Dec 2020, 3 p.m.
Last Modified: 11 Dec 2020, 3 p.m.
Panel version: 2.98

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood.
Sources: Expert list
Created: 8 Jul 2020, 7:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Jul 2020, 7:54 a.m.

Panel version: 2.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817

OMIM

611345

Clinvar variants

Variants in INTS1

Penetrance

None

Publications

Panels with this gene