Cytopenias and congenital anaemias
Gene: ASXL1Comment on list classification: This gene is somatic only on the COSMIC Cancer Gene Census list, and not germline. Comment from PMID: 20408841 "exon 12 of ASXL1 was sequenced in our cohort of JMML patients, we found 2 heterozygous mutations (4%): a
nonsense (c.2077C>T p.Arg693X) and a frameshift (c.2535delC
p.Ser846ValfsX21) mutation (Fig 1A). That these mutations
prevent proper transcription into RNA suggests they represent
somatic and not germline events. CD3+ cells were used to confirm that the frameshift change was absent in the germline DNA; the non-sense mutation could not be confirmed. Neither mutation has been previously reported. LOH20q11 corresponding to ASXL1 locus was not detected in any of the cases studied, indicating that the corresponding mutations were heterozygous. We have also identified a number of polymorphisms present in
both tumour cells and CD3+cells (Fig 1A). The significance of these polymorphisms remains unclear but some have been observed in healthy controls."Created: 22 Feb 2017, 4:37 p.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286; juvenile myelomonocytic leukaemia; aquired aplastic anaemia
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286; juvenile myelomonocytic leukaemia; aplastic anaemia (somatic)
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286; juvenile myelomonocytic leukaemia;aplastic anaemia
Publications for ASXL1 were set to 20408841; 24255920;28107566
This gene has been classified as Red List (Low Evidence).
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286;juvenile myelomonocytic leukaemia
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ASXL1 were set to 20408841; 24255920
ASXL1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
ASXL1 was created by LouiseD