Haematological malignancies cancer susceptibility
Gene: PARNEnsemblGeneIds (GRCh38): ENSG00000140694
EnsemblGeneIds (GRCh37): ENSG00000140694
OMIM: 604212, Gene2Phenotype
PARN is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees the mode of inheritance is 'both'.Created: 20 Aug 2018, 1:17 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
- OMIM
- 604212
- Clinvar variants
- Variants in PARN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PARN were changed from Class: BM failure syndrome (typ AR); Dyskeratosis congenita; MDS, AML; Oral and GI squamous cell carcinoma to Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: PARN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to PARN. Panel: Haematological malignancies pertinent cancer susceptibility
Created
Ellen McDonagh (Genomics England Curator)PARN was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PARN was added to Haematological malignanciespanel. Sources: Curated sources