Intellectual disability update Jan 2018
Gene: LIMK1

LIMK1 (LIM domain kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000106683
EnsemblGeneIds (GRCh37): ENSG00000106683
OMIM: 601329, Gene2Phenotype
LIMK1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM or G2P, however, some deletions of 7q11.23 in Williams-Beuren syndrome (194050) do encompass the LIMK1 gene and Frangiskakis et al. (1996) suggested that "LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome".
Candidate ID gene (Grozeva 2015 PMID 26350204).
Created: 8 Mar 2018, 11:30 a.m.

Created: 8 Mar 2018, 11:30 a.m.

Panel version: 0.429

Details

Sources

Expert Review Red

Phenotypes

Williams-Beuren syndrome 194050

OMIM

601329

Clinvar variants

Variants in LIMK1

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

8 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LIMK1 were set to Williams-Beuren syndrome 194050

8 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for LIMK1 were set to 8689688; 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LIMK1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red