Cytopenias and congenital anaemias
Gene: ACSL6
ACSL6 (acyl-CoA synthetase long chain family member 6)
EnsemblGeneIds (GRCh38): ENSG00000164398
EnsemblGeneIds (GRCh37): ENSG00000164398
OMIM: 604443, Gene2Phenotype
ACSL6 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000164398
EnsemblGeneIds (GRCh37): ENSG00000164398
OMIM: 604443, Gene2Phenotype
ACSL6 is in 1 panel
1 review
Helen Brittain (Genomics England Curator)
Evidence of involvement in a gene fusion event via translocation in MDS, AML and AEL (acute eosinophilic leukaemia); one case of each. No clear evidence to date of germline mutation leading to haematological phenotype however.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome; Myelogenous leukemia, acute
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myelodysplastic syndrome
- Myelogenous leukemia, acute
- OMIM
- 604443
- Clinvar variants
- Variants in ACSL6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)ACSL6 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene ACSL6 was set to Unknown
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)ACSL6 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)ACSL6 was created by LouiseD