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Intellectual disability

Gene: KDM5A

Red List (low evidence)

KDM5A (lysine demethylase 5A)
EnsemblGeneIds (GRCh38): ENSG00000073614
EnsemblGeneIds (GRCh37): ENSG00000073614
OMIM: 180202, Gene2Phenotype
KDM5A is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Should be grey. ]No evidence to suggest that variants in this gene are linked to Intellectual Disability. However, there is some evidence linking fusion variants in this gene to poor prognosis in megakaryoblastic leukaemia
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
Unknown

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
180202
Clinvar variants
Variants in KDM5A
Penetrance
Complete
Publications
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.

29 Nov 2017, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KDM5A was set to Unknown

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)

KDM5A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KDM5A was added to Intellectual disabilitypanel. Sources: Expert Review Red