Growth failure in early childhood
Gene: INTS1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.
There are at least 6 unrelated families where affected individuals have growth retardarion. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Sources: LiteratureCreated: 11 Dec 2020, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Publications
Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571
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).
gene: INTS1 was added gene: INTS1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: INTS1. 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, OMIM:618571, MONDO:0032817 Review for gene: INTS1 was set to AMBER