NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) AND Diabetes mellitus, permanent neonatal, with neurologic features

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)]

NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)

KCNJ11:potassium voltage-gated channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)
  • NC_000011.10:g.17387595C>A
  • NG_012446.1:g.6065G>T
  • NM_000525.3:c.497G>T
  • NP_000516.3:p.Cys166Phe
  • NC_000011.9:g.17409142C>A
Protein change:
C166F; CYS166PHE
OMIM: 600937.0015; dbSNP: 80356618
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000525.3:c.497G>T - missense variant - [Sequence Ontology: SO:0001583]


Diabetes mellitus, permanent neonatal, with neurologic features
MedGen: C1833102

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000029434OMIMno assertion criteria providedPathogenic
(Mar 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL, Siddiqui J, Ellard S.

Hum Mutat. 2006 Mar;27(3):220-31. Review.

PubMed [citation]

Details of each submission

From OMIM, SCV000029434.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)


In an infant with a severe form of permanent neonatal diabetes mellitus with neurologic features (PNDM; 606176), Gloyn et al. (2006) identified a heterozygous G-to-T transversion in the KCNJ11 gene, resulting in a cys166-to-phe (C166F) substitution. The infant had feeding problem from birth and was diagnosed with diabetes mellitus at age 3 months. She also had seizures with hypsarrhythmia, progressive neurologic deterioration, diffuse hypotonia, and dysmorphic facial features. She died from aspiration pneumonia at age 6 months. Gloyn et al. (2006) noted that the C166F mutation is predicted to result in a channel with a marked increase in open probability and reduced sensitivity to ATP, which would severely alter the function of the channel in brain, muscle, and nerves, in addition to pancreatic beta cells.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 5, 2017