| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.52 | ATRX | Louise Daugherty Classified gene: ATRX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.52 | ATRX | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.52 | ATRX | Louise Daugherty Gene: atrx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | ATRX |
Louise Daugherty Source Expert Review Green was added to ATRX. Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.11 | ATRX | Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | ATRX | Frances Smith reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11449489, 19444090, 17579672; Phenotypes: 301040 Alpha-thalassemia/mental retardation syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | ATRX |
Louise Daugherty Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Publications for gene ATRX were changed from to 11449489; 17579672; 19444090 |
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| Rare anaemia v0.8 | ATRX | Louise Daugherty Source NHS GMS was added to ATRX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | ATRX |
Louise Daugherty gene: ATRX was added gene: ATRX was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: ATRX was set to |
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