Haematological malignancies cancer susceptibility
Gene: ACDEnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as the patient with AR inheritance had a more severe phenotype.Created: 1 Jul 2021, 3:32 p.m. | Last Modified: 1 Jul 2021, 3:32 p.m.
Panel Version: 2.17
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees the mode of inheritance is 'both'.Created: 20 Aug 2018, 1:15 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
- Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
- MDS, AML
- Oral and GI squamous cell carcinoma
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Pulmonary fibrosis familial
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Familial pulmonary fibrosis
- Familial melanoma
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACD were changed from Class: BM failure syndrome (typ AR); Dyskeratosis congenita; MDS, AML; Oral and GI squamous cell carcinoma to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553; MDS, AML; Oral and GI squamous cell carcinoma
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to ACD. Panel: Haematological malignancies pertinent cancer susceptibility
Created
Ellen McDonagh (Genomics England Curator)ACD was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ACD was added to Haematological malignanciespanel. Sources: Curated sources