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Intellectual disability - microarray and sequencing v3.1678 KDM3B Sarah Leigh Phenotypes for gene: KDM3B were changed from Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012
Intellectual disability - microarray and sequencing v3.1519 KDM3B Ivone Leong Tag Q2_21_rating was removed from gene: KDM3B.
Intellectual disability - microarray and sequencing v3.1519 KDM3B Sarah Leigh commented on gene: KDM3B
Intellectual disability - microarray and sequencing v3.1519 KDM3B Ivone Leong Source Expert Review Green was added to KDM3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1146 KDM3B Ivone Leong Added comment: Comment on publications: PMID: 30929739. 8/16 patients had short stature (< -2.5 SD) and 9/15 had neonatal feeding difficulties. 5/16 had joint hypermobility, 4/17 had hearing loss.
Intellectual disability - microarray and sequencing v3.1146 KDM3B Ivone Leong Publications for gene: KDM3B were set to 30929739
Intellectual disability - microarray and sequencing v3.1145 KDM3B Ivone Leong Tag Q2_21_rating tag was added to gene: KDM3B.
Intellectual disability - microarray and sequencing v3.1145 KDM3B Ivone Leong commented on gene: KDM3B: After consulting with the Genomics England Clinical Team it was decided that this gene should be promoted to Green status at the next review.
Intellectual disability - microarray and sequencing v3.462 KDM3B Ivone Leong commented on gene: KDM3B
Intellectual disability - microarray and sequencing v3.0 KDM3B Zornitza Stark reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929739; Phenotypes: Intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability - microarray and sequencing v2.794 KDM3B Louise Daugherty Classified gene: KDM3B as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v2.794 KDM3B Louise Daugherty Added comment: Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review there is not enough evidence to support gene-disease association rating of this gene to Green.
Intellectual disability - microarray and sequencing v2.794 KDM3B Louise Daugherty Gene: kdm3b has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v2.793 KDM3B Louise Daugherty Phenotypes for gene: KDM3B were changed from to Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures
Intellectual disability - microarray and sequencing v2.792 KDM3B Louise Daugherty Mode of inheritance for gene: KDM3B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v2.791 KDM3B Louise Daugherty Publications for gene: KDM3B were set to
Intellectual disability - microarray and sequencing v2.789 KDM3B Konstantinos Varvagiannis reviewed gene: KDM3B: Rating: AMBER; Mode of pathogenicity: None; Publications: doi.org/10.1016/j.ajhg.2019.02.023; Phenotypes: Global developmental delay, Intellectual disability, Short stature, Behavioral abnormality, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v2.789 KDM3B Konstantinos Varvagiannis Deleted their review
Intellectual disability - microarray and sequencing v2.789 KDM3B Konstantinos Varvagiannis Deleted their comment
Intellectual disability - microarray and sequencing v2.789 KDM3B Konstantinos Varvagiannis reviewed gene: KDM3B: Rating: AMBER; Mode of pathogenicity: None; Publications: doi.org/10.1016/j.ajhg.2019.02.023; Phenotypes: Global developmental delay, Intellectual disability, Short stature, Behavioral abnormality, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v2.468 KDM3B Louise Daugherty gene: KDM3B was added
gene: KDM3B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM3B was set to