1. Panels
  2. Maturity-onset Diabetes of the Young
  3. INS
STRs in panel
Prev Next
Regions in panel
Prev Next

Maturity-onset Diabetes of the Young

Gene: INS

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Both have DEFINITIVE classification by ClinGen MODY expert panel

AR Monogenic Diabetes - loss of function (https://search.clinicalgenome.org/CCID:005148)

AD Monogenic Diabetes - toxic gain of function, related to misfolding of the proinsulin molecule leading to ER stress and apoptosis (PMID: 9884331) - https://search.clinicalgenome.org/CCID:005149
Created: 25 Apr 2024, 6:58 a.m. | Last Modified: 25 Apr 2024, 6:58 a.m.
Panel Version: 1.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
monogenic diabetes MONDO:0015967

Publications

Created: 25 Apr 2024, 6:58 a.m.
Last Modified: 25 Apr 2024, 6:58 a.m.
Panel version: 1.17

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established associations.
Created: 16 Mar 2022, 5:16 a.m. | Last Modified: 16 Mar 2022, 5:16 a.m.
Panel Version: 0.11430

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370

Publications

Created: 16 Mar 2022, 5:16 a.m.
Last Modified: 16 Mar 2022, 5:16 a.m.
Panel version: Imported from Mendeliome panel version 0.11430

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • monogenic diabetes MONDO:0015967
  • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
  • Diabetes mellitus, permanent neonatal 4, MIM# 618858
  • Maturity-onset diabetes of the young, type 10, MIM# 613370
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INS were changed from Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes to monogenic diabetes MONDO:0015967; Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370

30 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INS were set to 18162506

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: INS were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: INS was added gene: INS was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes