Familial melanoma
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
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 31 Jul 2019, 12:55 p.m. | Last Modified: 31 Jul 2019, 12:55 p.m.
Panel Version: 0.23
Lara Hawkes (Genomics England)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Familial melanoma
- COVID-19 research
History Filter Activity
30 Jan 2019, Gel status: 2
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: ACD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: acd has been classified as Amber List (Moderate Evidence).
30 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ACD was added gene: ACD was added to Familial melanoma. Sources: NHS GMS Mode of inheritance for gene: ACD was set to