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Intellectual disability v9.113 ADCY5 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are patients from two different families reported with biallelic ADCY5 variants and severe intellectual disability. Hence, the MOPI has been updated to 'BIALLELIC, autosomal or pseudoautosomal' and the rating has been changes to amber with the current evidence.; to: Comment on list classification: There are patients from two different families reported with biallelic ADCY5 variants and severe intellectual disability. Hence, the MOI and rating have been updated to 'BIALLELIC, autosomal or pseudoautosomal' and amber respectively.
Intellectual disability v9.113 ADCY5 Achchuthan Shanmugasundram Classified gene: ADCY5 as Amber List (moderate evidence)
Intellectual disability v9.113 ADCY5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are patients from two different families reported with biallelic ADCY5 variants and severe intellectual disability. Hence, the MOPI has been updated to 'BIALLELIC, autosomal or pseudoautosomal' and the rating has been changes to amber with the current evidence.
Intellectual disability v9.113 ADCY5 Achchuthan Shanmugasundram Gene: adcy5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.112 ADCY5 Achchuthan Shanmugasundram Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v9.111 ADCY5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADCY5 was changed from Other - please provide details in the comments to None
Intellectual disability v9.110 ADCY5 Achchuthan Shanmugasundram Publications for gene: ADCY5 were set to 28511835
Intellectual disability v9.109 ADCY5 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Biallelic variants in ADCY5 gene has been associated with 'Neurodevelopmental disorder with hyperkinetic movements and dyskinesia' phenotype in OMIM (MIM #619651, OMIM accessed on 06 October 2025).
Intellectual disability v9.109 ADCY5 Achchuthan Shanmugasundram Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, 606703 to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651; neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
Intellectual disability v9.108 ADCY5 Achchuthan Shanmugasundram reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33704598, 34631954; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651, neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.343 ADCY5 Arina Puzriakova Classified gene: ADCY5 as Red List (low evidence)
Intellectual disability v3.343 ADCY5 Arina Puzriakova Gene: adcy5 has been classified as Red List (Low Evidence).
Intellectual disability v3.249 ADCY5 Arina Puzriakova commented on gene: ADCY5
Intellectual disability v3.0 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability ADCY5 Ellen McDonagh marked ADCY5 as ready
Intellectual disability ADCY5 BRIDGE consortium edited their review of ADCY5
Intellectual disability ADCY5 BRIDGE consortium edited their review of ADCY5
Intellectual disability ADCY5 Louise Daugherty classified ADCY5 as amber
Intellectual disability ADCY5 Louise Daugherty commented on ADCY5
Intellectual disability ADCY5 BRIDGE consortium reviewed ADCY5