Growth failure
Gene: KDM3BEnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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).
8/16 had short stature (< -2.5 SD)Created: 15 Aug 2021, 5 a.m. | Last Modified: 15 Aug 2021, 5 a.m.
Panel Version: 0.135
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm3b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KDM3B were changed from Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability to Intellectual disability; short stature
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KDM3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm3b has been classified as Green List (High Evidence).
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 Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber 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 Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability