Newborns additional phenotypes panel 1
Gene: INSEnsemblGeneIds (GRCh38): ENSG00000254647
EnsemblGeneIds (GRCh37): ENSG00000254647
OMIM: 176730, Gene2Phenotype
INS is in 5 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Multiple MOIs for the same phenotype included.
Additional Information: AD (GOF) and AR (LOF) forms of Diabetes mellitus are included.Created: 26 Sep 2024, 3:41 p.m. | Last Modified: 18 Nov 2025, 3:28 p.m.
Panel Version: 0.102
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.
Additional Information: Link to Monogenic Diabetes Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50016/Created: 26 Sep 2024, 3:41 p.m. | Last Modified: 26 Sep 2024, 3:41 p.m.
Panel Version: 0.100
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
INS curation results (clinicalgenome.org)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autosomal dominant diabetes mellitus, permanent neonatal 4
- Tags
- OMIM
- 176730
- Clinvar variants
- Variants in INS
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: INS.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Autosomal dominant diabetes mellitus, permanent neonatal 4 for gene: INS
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Autosomal dominant diabetes mellitus, permanent neonatal 4 for gene: INS
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag GOF was removed from gene: INS.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: INS were changed from Diabetes mellitus, permanent neonatal 4; Autosomal dominant diabetes mellitus, permanent neonatal 4 to Autosomal dominant diabetes mellitus, permanent neonatal 4
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to INS. Added phenotypes Autosomal dominant diabetes mellitus, permanent neonatal 4 for gene: INS Rating Changed from No List (delete) to Green List (high evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to INS. Rating Changed from Green List (high evidence) to No List (delete)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF tag was added to gene: INS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: INS was added gene: INS was added to Newborns additional phenotypes panel. Sources: Expert Review Green Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal 4 Mode of pathogenicity for gene: INS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments