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Intellectual disability v10.58 LONP1 Achchuthan Shanmugasundram Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373; Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v10.57 LONP1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least three unrelated individuals reported with monoallelic LONP1 variants and syndromic intellectual disability. Hence, the MOI for this gene can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Intellectual disability v10.57 LONP1 Achchuthan Shanmugasundram Mode of inheritance for gene: LONP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v10.56 LONP1 Achchuthan Shanmugasundram edited their review of gene: LONP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v10.56 LONP1 Achchuthan Shanmugasundram Publications for gene: LONP1 were set to 25574826; 20503327; 11471171; 1887855
Intellectual disability v10.55 LONP1 Achchuthan Shanmugasundram Tag Q3_26_MOI tag was added to gene: LONP1.
Intellectual disability v10.55 LONP1 Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40931319; Phenotypes: CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.816 LONP1 Ivone Leong Source: Expert Review Red was removed from gene: LONP1