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  3. INS
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Monogenic Diabetes

Gene: INS

Green List (high evidence)
INS (insulin)
EnsemblGeneIds (GRCh38): ENSG00000254647
EnsemblGeneIds (GRCh37): ENSG00000254647
OMIM: 176730, Gene2Phenotype
INS is in 7 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well established gene disease association for neonatal diabetes, >50probands reported (18162506; 17855560; 18451997)
Also reported >3 times in MODY (18162506; 18192540; 32034745; 30182532)
Created: 23 May 2024, 1:01 a.m. | Last Modified: 23 May 2024, 1:01 a.m.
Panel Version: 0.125

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240

Publications

Created: 23 May 2024, 1:01 a.m.
Last Modified: 23 May 2024, 1:01 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes mellitus, permanent neonatal 4 MONDO:0030089
  • maturity-onset diabetes of the young type 10 MONDO:0013240
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ins has been classified as Green List (High Evidence).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INS were changed from Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus to diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INS were set to

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INS was added gene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus