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Severe Paediatric Disorders v0.17 GATM Louise Daugherty Mode of inheritance for gene GATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATM Louise Daugherty Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 GATM Louise Daugherty reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GATM Louise Daugherty Publications for gene GATM were updated from to 30847515
Severe Paediatric Disorders v0.11 ATM Louise Daugherty Publications for gene ATM were updated from to 30847515
Severe Paediatric Disorders v0.10 GATM Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Severe Paediatric Disorders v0.10 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.9 GATM Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Severe Paediatric Disorders v0.9 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.9 GATM Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Severe Paediatric Disorders v0.9 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.8 GATM Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Severe Paediatric Disorders v0.8 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.7 GATM Louise Daugherty Source Next Generation Children Project was added to GATM.
Severe Paediatric Disorders v0.7 ATM Louise Daugherty Source Next Generation Children Project was added to ATM.
Severe Paediatric Disorders v0.5 GATM Louise Daugherty Source Expert Review Green was added to GATM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ATM Louise Daugherty Source Expert Review Green was added to ATM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GATM Louise Daugherty gene: GATM was added
gene: GATM was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GATM was set to
Severe Paediatric Disorders v0.4 ATM Louise Daugherty gene: ATM was added
gene: ATM was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ATM was set to