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| Inherited predisposition to acute myeloid leukaemia (AML) v1.15 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Classified gene: ACD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Gene: acd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ACD |
Paula Page gene: ACD was added gene: ACD was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Research Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 Penetrance for gene: ACD were set to unknown Review for gene: ACD was set to AMBER gene: ACD was marked as current diagnostic Added comment: On the current WWMGLH Familial MDS/AML panel. Associated with telomere biology disorders. In the telomerase specific database no association with AML (although aplastic anaemia is present). Not specifically in the WHO/ELN or Godley guidelines unless it is counted as a telomere biology gene. Would recommend advice from Tom Vulliamy. Sources: Research |
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