Inherited predisposition to acute myeloid leukaemia (AML)
Gene: ACDComment 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 AmberCreated: 18 Mar 2019, 4:29 p.m.
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: ResearchCreated: 7 Mar 2019, 12:34 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene: acd has been classified as Amber List (Moderate Evidence).
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