Childhood solid tumours
Gene: ACD
ACD (ACD, shelterin complex subunit and telomerase recruitment factor)
EnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Dyskeratosis congenita associated genes associated with cancer will be included in this panel; however, there does not appear to be enough evidence to change to green status. There are only 2 unrelated cases of patients with DC who have variants in ACD. Both cases did not document any signs of cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
- Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Familial melanoma
- COVID-19 research
History Filter Activity
30 Jun 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita 6 and 7 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
2 Aug 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ACD was added gene: ACD was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904; 25205116 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7