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Cataracts

Gene: INTS1

Amber List (moderate evidence)

INTS1 (integrator complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164880
EnsemblGeneIds (GRCh37): ENSG00000164880
OMIM: 611345, Gene2Phenotype
INTS1 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Tags
for-review
OMIM
611345
Clinvar variants
Variants in INTS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ints1 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: INTS1.

11 Dec 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817

8 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: INTS1 was added gene: INTS1 was added to Cataracts. Sources: Expert list 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 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Review for gene: INTS1 was set to GREEN gene: INTS1 was marked as current diagnostic