Growth failure
Gene: INTS1EnsemblGeneIds (GRCh38): ENSG00000164880
EnsemblGeneIds (GRCh37): ENSG00000164880
OMIM: 611345, Gene2Phenotype
INTS1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 6 unrelated families reported, poor growth is a key feature of the condition.Created: 15 Aug 2021, 4:58 a.m. | Last Modified: 15 Aug 2021, 4:58 a.m.
Panel Version: 0.134
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, #MIM:618571; MONDO:0032817
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- 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
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ints1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ints1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: INTS1 was added gene: INTS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 31428919; 30622326 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817