Deafness_IsolatedAndComplex
Gene: KDM3B
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 ReviewCreated: 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
Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Gene: kdm3b has been classified as Green List (High Evidence).
Gene: kdm3b has been classified as Green List (High Evidence).
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