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| DDG2P v3.12 | KDM3B | Achchuthan Shanmugasundram reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30929739; Phenotypes: DIETS-JONGMANS SYNDROME, OMIM:618846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM3B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v2.79 | KDM3B | Sarah Leigh Phenotypes for gene: KDM3B were changed from Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.115 | KDM3B | Rebecca Foulger commented on gene: KDM3B: New gene:disorder association added to DDG2P for KDM3B, September 2019: Intellectual Disability, Short Stature, and Facial Dysmorphism. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: loss of function; DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.115 | KDM3B | Rebecca Foulger Phenotypes for gene: KDM3B were changed from KDM3B-related intellectual disability, short stature and facial dysmorphism to Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.45 | KDM3B | Rebecca Foulger commented on gene: KDM3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.45 | KDM3B |
Rebecca Foulger gene: KDM3B was added gene: KDM3B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 KDM3B-related intellectual disability, short stature and facial dysmorphism |
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