Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Cerebral Palsy v1.44 ATM Zornitza Stark Marked gene: ATM as ready
Cerebral Palsy v1.44 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Cerebral Palsy v1.44 ATM Zornitza Stark Classified gene: ATM as Green List (high evidence)
Cerebral Palsy v1.44 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Cerebral Palsy v1.36 ATM Luisa Weiss changed review comment from: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia
Sources: Literature; to: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one of the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia
Sources: Literature
Cerebral Palsy v1.36 ATM Luisa Weiss gene: ATM was added
gene: ATM was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATM were set to 34364746; 26380989; 34114234
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM#208900
Review for gene: ATM was set to GREEN
Added comment: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia
Sources: Literature