Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: KCNJ11
Comment on mode of inheritance: Changed to be consistent with the Familial diabetes panel.Created: 22 Jul 2016, noon
Comment on mode of pathogenicity: Reviewer comment on the Familial Diabetes panel: "Activating KCNJ11 mutations cause diabetes" -
Sian Ellard (University of Exeter Medical School), Aug. 23, 2015, 5 p.m.Created: 22 Jul 2016, 11:59 a.m.
25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for KCNJ11 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of pathogenicity for KCNJ11 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen