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BabyScreen+ newborn screening

Gene: INS

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Largely mono-allelic variants associated with disease.

Some of the disorders have neonatal onset (neonatal diabetes), and some have onset in early adulthood (MODY). Some variants are deep intronic

Treatment: insulin

For review, given variable presentations.
Created: 12 Dec 2022, 7:57 a.m. | Last Modified: 12 Dec 2022, 7:57 a.m.
Panel Version: 0.1345

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
  • Expert list
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
Tags
for review treatable endocrine
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2022, 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).

12 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INS were changed from Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life to Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370

12 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Dec 2022, Gel status: 3

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: INS. Tag treatable tag was added to gene: INS. Tag endocrine tag was added to gene: INS.

18 Sep 2022, 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 gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life