This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- ?Dyskeratosis congenita, autosomal recessive 7, 616553
- ?Dyskeratosis congenita, autosomal dominant 6, 616553
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- Complete
- Publications
- 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
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ACD was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ACD was created by rfoulger