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| DDG2P v3.12 | KDM6B | Achchuthan Shanmugasundram reviewed gene: KDM6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, KDM6B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM6B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.171 | KDM6B | Rebecca Foulger Mode of pathogenicity for gene: KDM6B was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.170 | KDM6B | Rebecca Foulger Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; KDM6B-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.169 | KDM6B | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to match MOI of disorder with highest rating (KDM6B-related developmental disorder (monoallelic)). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.169 | KDM6B | Rebecca Foulger Mode of inheritance for gene: KDM6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.168 | KDM6B | Rebecca Foulger Classified gene: KDM6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.168 | KDM6B | Rebecca Foulger Gene: kdm6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.167 | KDM6B |
Rebecca Foulger commented on gene: KDM6B: Updated rating from Red to Amber to match current DDG2P ratings: DDG2P rating of probable for KDM6B-related developmental disorder (monoallelic): monoallelic, loss of function. DDG2P rating of possible for AUTOSOMAL RECESSIVE MENTAL RETARDATION: biallelic, all missense/in frame. |
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| DDG2P v0.2 | KDM6B | Rebecca Foulger reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KDM6B |
Rebecca Foulger gene: KDM6B was added gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM6B were set to 21937992 Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments |
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