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  3. KDM3B
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Deafness_IsolatedAndComplex

Gene: KDM3B

Green List (high evidence)
KDM3B (lysine demethylase 3B)
EnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness.
Sources: Expert Review
Created: 3 Jul 2021, 7:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness

Publications

Created: 3 Jul 2021, 7:32 a.m.

Panel version: 1.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • short stature
  • deafness
OMIM
609373
Clinvar variants
Variants in KDM3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness

3 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm3b has been classified as Green List (High Evidence).

3 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm3b has been classified as Green List (High Evidence).

3 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDM3B was added gene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to 30929739 Phenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness Review for gene: KDM3B was set to GREEN