Bilateral congenital or childhood onset cataracts
Gene: INTS1The 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
At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: INTS1.
Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ints1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: INTS1.
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
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