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Intellectual disability v8.97 MSL2 Sarah Leigh Tag Q3_24_promote_green was removed from gene: MSL2.
Tag Q3_24_NHS_review was removed from gene: MSL2.
Intellectual disability v8.97 MSL2 Sarah Leigh reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.97 MSL2 Sarah Leigh Source NHS GMS was added to MSL2.
Source Expert Review Green was added to MSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.67 MSL2 Arina Puzriakova Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194; 38702431; 38815585
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: MSL2.
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MSL2.
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38702431, 38815585; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.52 MSL2 Nour Elkhateeb reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38815585, 38702431; Phenotypes: Developmental delay, intellectual disability, autism spectrum disorder, hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.590 MSL2 Ivone Leong Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v3.590 MSL2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Intellectual disability v3.590 MSL2 Ivone Leong Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.590 MSL2 Ivone Leong Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v3.590 MSL2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Intellectual disability v3.590 MSL2 Ivone Leong Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.510 MSL2 Zornitza Stark gene: MSL2 was added
gene: MSL2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 31332282; 33057194
Phenotypes for gene: MSL2 were set to Developmental disorders; autism
Review for gene: MSL2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
PMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model
Sources: Literature