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Intellectual disability

Gene: KDM6B

Amber List (moderate evidence)

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient number of patients to rate this gene GREEN at the next major review - psychomotor delay was consistently reported and was the key indication for clinical investigation in several cases.
Created: 28 Sep 2020, 11:49 a.m. | Last Modified: 28 Sep 2020, 11:49 a.m.
Panel Version: 3.353
Associated with phenotype in OMIM, and a probable gene for KDM6B-related developmental disorder (monoallelic) in G2P.

PMID: 31124279 (2019) - 12 unrelated patients with DD/ID, dysmorphic facial features, and other clinical findings due to different de novo variants in the KDM6B gene. Neurodevelopmental features include language delays (11/11), motor delays (10/11), cognitive impairment (5/6) and ASD (6/12).

Note that one consanguineous family with moderate ID, facial dysmorphism, syndactyly, and short toes has also been reported in association with a homozygous (p.Pro888Ser) variant (PMID:21937992). However, this is the only biallelic case to date and therefore evidence for this is limited.
Created: 28 Sep 2020, 11:39 a.m. | Last Modified: 28 Sep 2020, 11:39 a.m.
Panel Version: 3.349

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505

Publications

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505
Tags
for-review
OMIM
611577
Clinvar variants
Variants in KDM6B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kdm6b has been classified as Amber List (Moderate Evidence).

28 Sep 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KDM6B were changed from Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505

28 Sep 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505

28 Sep 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KDM6B were set to 21937992

28 Sep 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KDM6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Sep 2020, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: KDM6B.

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)

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

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KDM6B was created by ellenmcdonagh