Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v4.53 SLC12A5 Arina Puzriakova Tag Q1_22_MOI was removed from gene: SLC12A5.
Intellectual disability - microarray and sequencing v4.53 SLC12A5 Arina Puzriakova commented on gene: SLC12A5
Intellectual disability - microarray and sequencing v4.52 SLC12A5 Arina Puzriakova Source NHS GMS was added to SLC12A5.
Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1523 SLC12A5 Sarah Leigh reviewed gene: SLC12A5: Rating: ; Mode of pathogenicity: None; Publications: 24928908, 24668262, 26333769; Phenotypes: Developmental and epileptic encephalopathy 34, OMIM:616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1523 SLC12A5 Sarah Leigh Publications for gene: SLC12A5 were set to 24668262; 26333769
Intellectual disability - microarray and sequencing v3.1522 SLC12A5 Sarah Leigh Tag Q1_22_MOI tag was added to gene: SLC12A5.
Intellectual disability - microarray and sequencing v3.1522 SLC12A5 Sarah Leigh Phenotypes for gene: SLC12A5 were changed from FEBRILE SEIZURES to Developmental and epileptic encephalopathy 34, OMIM; 616645
Intellectual disability - microarray and sequencing v3.1521 SLC12A5 Sarah Leigh Publications for gene: SLC12A5 were set to 24668262