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IBMDx study

Gene: PARN

Green List (high evidence)
PARN (poly(A)-specific ribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000140694
EnsemblGeneIds (GRCh37): ENSG00000140694
OMIM: 604212, Gene2Phenotype
PARN is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with both mono-allelic and bi-allelic disease.
Created: 17 Jun 2021, 11:25 p.m. | Last Modified: 17 Jun 2021, 11:25 p.m.
Panel Version: 0.282

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371

Publications

Created: 17 Jun 2021, 11:25 p.m.
Last Modified: 17 Jun 2021, 11:25 p.m.
Panel version: Imported from Bone Marrow Failure panel version 0.282

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
  • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
OMIM
604212
Clinvar variants
Variants in PARN
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PARN was added gene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: PARN was set to Unknown Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353