Intellectual disability update Jan 2018
Gene: KLHL21

KLHL21 (kelch like family member 21)
EnsemblGeneIds (GRCh38): ENSG00000162413
EnsemblGeneIds (GRCh37): ENSG00000162413
OMIM: 616262, Gene2Phenotype
KLHL21 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Grozeva et al, (2015) PMID: 26350204 and Jensen LR (2010) PMID: 20181063 (previous gene symbol KIAA0469)
Created: 5 Mar 2018, 11:23 a.m.

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype. This gene is also not currently a DD gene in Gene2Phenotype.
Created: 5 Mar 2018, 11:19 a.m.

Created: 5 Mar 2018, 11:13 a.m.

Panel version: 0.289

Details

Sources

Expert Review Red

OMIM

616262

Clinvar variants

Variants in KLHL21

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

5 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KLHL21 were set to 20181063; 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KLHL21 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

KLHL21 was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: KLHL21