Activity
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6 actions
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| Childhood solid tumours v5.6 | ERCC1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 4 individuals from 3 families with childhood-onset hepatocellular carcinoma due to biallelic variants in this gene. Diagnosis may have treatment implications due to heightened sensitivity of individuals with ERCC1 variants to DNA-damaging agents. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.22 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia Telangiectasia; 208900 to Ataxia-telangiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ATM | Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.26 | ATM |
Ivone Leong Source NHS GMS was added to ATM. Added phenotypes Ataxia Telangiectasia for gene: ATM Publications for gene ATM were changed from 9463314 to 9288106 |
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| Childhood solid tumours v1.23 | ATM | Lara Hawkes reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia Telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.22 | ATM |
Ivone Leong Source Expert List was added to ATM. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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