Intellectual disability update Jan 2018
Gene: KLF8

KLF8 (Kruppel like factor 8)
EnsemblGeneIds (GRCh38): ENSG00000102349
EnsemblGeneIds (GRCh37): ENSG00000102349
OMIM: 300286, Gene2Phenotype
KLF8 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: added publication to support single case of patient with ID. However, the authors could not exclude a role for potential genes on chromosome 21q22. Direct sequencing of the KLF8 gene in 20 unrelated X-linked mental retardation (XLMR) families showing linkage to Xp11 did not identify pathogenic mutations, suggesting that disruption of the KLF8 gene is not a common cause of XLMR. There is not enough evidence to date to change the rating of this gene.
Created: 19 Feb 2018, 5:12 p.m.

From OMIM: To date only one case has been reported for nonsyndromic mental retardation Lossi et al. (2002) PMID: 11836360
who reported a girl with nonsyndromic mental retardation associated with a de novo balanced translocation t(X;21)(p11.2;q22.3) that interrupted the KLF8 gene.
Created: 19 Feb 2018, 5:10 p.m.

Created: 19 Feb 2018, 5:10 p.m.

Panel version: 0.37

Details

Sources

Expert Review Red
Emory Genetics Laboratory

Phenotypes

Intellectual disability

OMIM

300286

Clinvar variants

Variants in KLF8

Penetrance

None

Publications

11836360

Panels with this gene

History Filter Activity

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KLF8 were set to 11836360

19 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KLF8 were set to Intellectual disability

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF8 was added to Intellectual disability update Jan 2018 panel. Sources: Emory Genetics Laboratory,Expert Review Red

18 Dec 2017, Gel status: 1

Created