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DDG2P

Gene: KDM3B

Amber List (moderate evidence)

KDM3B (lysine demethylase 3B)
EnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

New gene:disorder association added to DDG2P for KDM3B, September 2019: Intellectual Disability, Short Stature, and Facial Dysmorphism. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: loss of function; DDG2P mode of inheritance: monoallelic.
Created: 3 Oct 2019, 10:56 a.m. | Last Modified: 3 Oct 2019, 10:56 a.m.
Panel Version: 1.115
New gene:disorder association added to DDG2P on 17/05/2019: KDM3B-related intellectual disability, short stature and facial dysmorphism. DDG2P Disease confidence rating: probable. DDG2P mode of Inheritance: monoallelic. DDG2P mode of pathogenicity/mutation consequence: loss of function.
Created: 3 Jun 2019, 11 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Intellectual Disability, Short Stature, and Facial Dysmorphism
  • KDM3B-related intellectual disability, short stature and facial dysmorphism
OMIM
609373
Clinvar variants
Variants in KDM3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KDM3B were changed from KDM3B-related intellectual disability, short stature and facial dysmorphism to Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism

3 Jun 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KDM3B was added gene: KDM3B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM3B were set to 30929739 Phenotypes for gene: KDM3B were set to KDM3B-related intellectual disability, short stature and facial dysmorphism