Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v3.1183 SAMD9L Ivone Leong Classified gene: SAMD9L as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.1183 SAMD9L Ivone Leong Gene: samd9l has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.1182 SAMD9L Ivone Leong Phenotypes for gene: SAMD9L were changed from Intellectual disability to Intellectual disability, MONDO:0001071
Intellectual disability - microarray and sequencing v3.1163 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 33710394
Phenotypes for gene: SAMD9L were set to Intellectual disability
Review for gene: SAMD9L was set to RED
Added comment: Missense variant reported de novo in a patient with moderate ID, in a large cohort study. Authors described it as a phenotype expansion as ataxia-pancytopenia not found in that patient.
Sources: Literature
Intellectual disability - microarray and sequencing SAMD9 Helen Brittain marked SAMD9 as ready
Intellectual disability - microarray and sequencing SAMD9 Helen Brittain classified SAMD9 as green
Intellectual disability - microarray and sequencing SAMD9 Helen Brittain added SAMD9 to panel
Intellectual disability - microarray and sequencing SAMD9 Helen Brittain reviewed SAMD9