Research panel - Severe Paediatric Disorders
Gene: PARN

PARN (poly(A)-specific ribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000140694
EnsemblGeneIds (GRCh37): ENSG00000140694
OMIM: 604212, Gene2Phenotype
PARN is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PARN; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dyskeratosis congenita, autosomal recessive 6, 616353 (3) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

604212

Clinvar variants

Variants in PARN

Penetrance

None

Publications

30847515

Panels with this gene