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Mendeliome v0.8311 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature
Mendeliome v0.8310 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature
Mendeliome v0.830 KDM3B Alison Yeung Marked gene: KDM3B as ready
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.830 KDM3B Alison Yeung Classified gene: KDM3B as Green List (high evidence)
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.281 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Mendeliome_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 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature
Review for gene: KDM3B was set to GREEN
Added comment: 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