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Childhood solid tumours

Gene: KDM3B

Green List (high evidence)
KDM3B (lysine demethylase 3B)
EnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 10:34 a.m. | Last Modified: 6 Dec 2024, 10:34 a.m.
Panel Version: 4.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Dec 2024, 10:34 a.m.
Last Modified: 6 Dec 2024, 10:34 a.m.
Panel version: 4.20

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Dmitrijs Rots, there are four cases reported with KDM3B variants and with cancer, of which three cases are childhood solid tumours (two cases with Wilms tumour and one case with Hodgkin lymphoma), while the fourth case had acute myeloid leukaemia in childhood.

Hence, this gene can be promoted to green rating in the next GMS review.
Created: 11 Apr 2024, 12:52 p.m. | Last Modified: 11 Apr 2024, 12:52 p.m.
Panel Version: 4.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diets-Jongmans syndrome, OMIM:618846

Publications

Created: 11 Apr 2024, 12:48 p.m.
Last Modified: 11 Apr 2024, 12:48 p.m.
Panel version: 4.16

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

in 30885698 and 30929739 in total are reported 4 cases with cancer (2 Wilms tumor, 1 AML and 1 HL) AND de novo variants. enough evidence for green rating.
Sources: Literature
Created: 17 May 2023, 6:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diets-Jongmans syndrome

Publications

Created: 17 May 2023, 6:02 p.m.

Panel version: 4.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Diets-Jongmans syndrome, OMIM:618846
OMIM
609373
Clinvar variants
Variants in KDM3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: KDM3B.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to KDM3B. Source NHS GMS was added to KDM3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: kdm3b has been classified as Amber List (Moderate Evidence).

11 Apr 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KDM3B were changed from Diets-Jongmans syndrome to Diets-Jongmans syndrome, OMIM:618846

11 Apr 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: KDM3B.

17 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Dmitrijs Rots (Children's Clinical University Hospital)

gene: KDM3B was added gene: KDM3B was added to Childhood solid tumours. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to 30885698; 30929739 Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome Review for gene: KDM3B was set to GREEN