Pulmonary fibrosis familial
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
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant, OMIM:616553
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- None
- 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
25 Mar 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACD were changed from Dyskeratosis congenita, autosomal dominant, OMIM:6 to Dyskeratosis congenita, autosomal dominant, OMIM:616553
25 Mar 2022, Gel status: 3
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ACD were set to
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ACD was added gene: ACD was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ACD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACD were set to Dyskeratosis congenita, autosomal dominant, OMIM:6