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DDG2P v3.12 KDM5B Achchuthan Shanmugasundram reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 24307393, 28135719, 30409806, 28720891; Phenotypes: AUTISM, OMIM:209850, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.11 KDM5B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM5B.
Publications for gene: KDM5B were updated from 28720891; 30409806; 24307393 to 29276005; 24307393; 30409806; 28135719; 28720891
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.124 KDM5B Rebecca Foulger Publications for gene: KDM5B were set to 24307393; 28720891
DDG2P v1.123 KDM5B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'monoallelic' to 'BOTH monoallelic and biallelic' to match the September 2019 DDG2P update.
DDG2P v1.123 KDM5B Rebecca Foulger Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.122 KDM5B Rebecca Foulger Classified gene: KDM5B as Amber List (moderate evidence)
DDG2P v1.122 KDM5B Rebecca Foulger Added comment: Comment on list classification: Updated rating of KDM5B from Red to Amber: A DDG2P update (September 2019) has changed the rating from 'possible' to 'probable'. The Mode of inheritance was also changed in the September 2019 update from monoallelic to both monoallelic and biallelic.
DDG2P v1.122 KDM5B Rebecca Foulger Gene: kdm5b has been classified as Amber List (Moderate Evidence).
DDG2P v1.121 KDM5B Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for Autism: possible. DDG2P Mutation consequence: loss of function. Mode of inheritance: monoallelic.
DDG2P v0.2 KDM5B Rebecca Foulger reviewed gene: KDM5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 KDM5B Rebecca Foulger gene: KDM5B was added
gene: KDM5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM5B were set to 24307393; 28720891
Phenotypes for gene: KDM5B were set to Autism