PARN

poly(A)-specific ribonuclease
OMIM: 604212, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PARN in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Green PARN in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Green PARN in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Green PARN in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Green PARN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green PARN in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Green PARN in IBMDx study Version 0.25	review	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