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Mendeliome

Gene: KLF11

Red List (low evidence)

KLF11 (Kruppel like factor 11)
EnsemblGeneIds (GRCh38): ENSG00000172059
EnsemblGeneIds (GRCh37): ENSG00000172059
OMIM: 603301, Gene2Phenotype
KLF11 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Association with monogenic diabetes now Refuted
Classification - 02/08/2023. ClinGen Monogenic Diabetes GCEP - https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z?page=1&size=25&search=
Created: 29 Feb 2024, 12:19 a.m. | Last Modified: 29 Feb 2024, 12:19 a.m.
Panel Version: 1.1565
One of the variants originally identified (p.Thr220Met) is too common in gnomAD to cause a dominant disorder (African AF is 0.04399, 22 homozygotes). The other variant from the original publication (A347S) has been reported to segregate with type 2 diabetes in one family. In vitro functional assays of A347S showed disruption of KLF11-mediated increases in basal insulin levels and promoter activity and blunted glucose-stimulated insulin secretion. Another missense variant (His418Gln) has been identified in a family clinically diagnosed with early childhood-onset type 1B diabetes, where in vitro functional assays suggested a dominant negative effect for the variant.
Klf11-/- mice have decreased circulating insulin levels, alterations in the control of blood glucose and body weight, as well as serum dyslipidemia, but do not develop diabetes.
Created: 6 Feb 2020, 11:38 p.m. | Last Modified: 6 Feb 2020, 11:38 p.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type VII MIM#610508

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type VII MIM#610508
OMIM
603301
Clinvar variants
Variants in KLF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Feb 2024, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: KLF11 were set to 15774581; 26248217; 23589285; 31124255

29 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: klf11 has been classified as Red List (Low Evidence).

11 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf11 has been classified as Amber List (Moderate Evidence).

11 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF11 were changed from to Maturity-onset diabetes of the young, type VII MIM#610508

11 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLF11 were set to

11 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf11 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLF11 was added gene: KLF11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLF11 was set to Unknown