Activity
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16 actions
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| DDG2P v6.426 | KDM5B |
Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource. Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026. |
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| DDG2P v6.426 | KDM5B | Achchuthan Shanmugasundram Phenotypes for gene: KDM5B were changed from KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092 to KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.425 | KDM5B |
Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource. Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026. |
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| DDG2P v6.425 | KDM5B | Achchuthan Shanmugasundram Phenotypes for gene: KDM5B were changed from Autism to KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.424 | KDM5B | Achchuthan Shanmugasundram edited their review of gene: KDM5B: Changed phenotypes to: KDM5B-related neurodevelopmental disorder (biallelic), Intellectual developmental disorder, autosomal recessive 65, OMIM:618109, intellectual disability, autosomal recessive, MONDO:0020850, KDM5B-related neurodevelopmental disorder (monoallelic), neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| 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 |
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