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Intellectual disability syndromic and non-syndromic

Gene: KDM3B

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Chirag Patel (Genetic Health Queensland)

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. No functional studies.
Sources: Literature
Created: 11 Dec 2019, 11:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • dysmorphic features
  • short stature
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; dysmorphic features; short stature; no OMIM number yet to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature

12 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM3B were changed from no OMIM number yet to Intellectual disability; dysmorphic features; short stature; no OMIM number yet

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: KDM3B was added gene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to PMID: 30929739 Phenotypes for gene: KDM3B were set to no OMIM number yet Review for gene: KDM3B was set to GREEN