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Additional findings_Paediatric

Gene: INS

Green List (high evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list.
Sources: Expert list
Created: 27 Sep 2020, 11:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 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
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2020, 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).

28 Sep 2020, 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).

27 Sep 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: INS was added gene: INS was added to Newborn Screening_BabySeq. Sources: Expert list 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 Review for gene: INS was set to GREEN