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Intellectual disability

Gene: KLHL15

Amber List (moderate evidence)

KLHL15 (kelch like family member 15)
EnsemblGeneIds (GRCh38): ENSG00000174010
EnsemblGeneIds (GRCh37): ENSG00000174010
OMIM: 300980, Gene2Phenotype
KLHL15 is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from Red to Amber, there are currently only two unrelated cases with Intellectual Disability and only pathogenic deletion variants have been reported for this gene.
Created: 5 Mar 2018, 11:13 a.m.
added deletions tag, currently only pathogenic deletion variants reported for this gene.
Created: 5 Mar 2018, 11:10 a.m.
Comment on phenotypes: added phenotype from OMIM
Created: 5 Mar 2018, 10:58 a.m.
Comment on publications: Added publications to support the association to the ID phenotype Mignon-Ravix et al. (2014) PMID: 24817631 reported a boy with X-linked mental retardation-103 (MRX103) and Hu et al. (2016) PMID: 25644381 reported a large multigenerational family (8 affected males) with MRX103
Created: 5 Mar 2018, 10:57 a.m.
Comment on mode of inheritance: added MOI from PMID:24817631, 25644381
Created: 5 Mar 2018, 10:48 a.m.
This is a possible DD gene in Gene2Phenotype for intellectual disability
Created: 5 Mar 2018, 10:40 a.m.
Comment on publications: This was a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, there is now evidence in the literature to support the association between variants of this gene and an observed intellectual disability phenotype.
Created: 5 Mar 2018, 10:36 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked 103, 300982
  • MRX103
  • Intellectual disability
Tags
deletions
OMIM
300980
Clinvar variants
Variants in KLHL15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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.

12 Mar 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to KLHL15. Panel: Intellectual disability Model of inheritance for gene KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene KLHL15 was set to ['26350204', '24817631', '25644381']

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

Created

Ellen McDonagh (Genomics England Curator)

KLHL15 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KLHL15 was added to Intellectual disabilitypanel. Sources: Expert Review Red