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Intellectual disability

Gene: LIMK1

Red List (low evidence)

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

3 reviews

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.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
Phenotypes
  • Williams-Beuren syndrome
OMIM
601329
Clinvar variants
Variants in LIMK1
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LIMK1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LIMK1 was created by ellenmcdonagh