Ductal plate malformation
Gene: ACDEnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
- Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACD were changed from ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553) to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Confirmed to cause Dyskeratosi
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ACD was added gene: ACD was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACD were set to ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553)