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Intellectual disability

Gene: KDM6B

Red List (low evidence)

KDM6B (lysine demethylase 6B)
EnsemblGeneIds (GRCh38): ENSG00000132510
EnsemblGeneIds (GRCh37): ENSG00000132510
OMIM: 611577, Gene2Phenotype
KDM6B is in 3 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

12 unrelated individuals with de novo variants in this gene.
Created: 8 Feb 2020, 9:47 a.m. | Last Modified: 8 Feb 2020, 9:47 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Variants in this GENE are reported as part of current diagnostic practice

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)

One case of a variant in this gene being linked to mental retardation-33 (614341) in one consanguineous family. No other evidence found
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
611577
Clinvar variants
Variants in KDM6B
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.

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)

KDM6B was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KDM6B was added to Intellectual disabilitypanel. Sources: Expert Review Red