PARN

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PARN in Bone Marrow Failure Level 2: Haematological disorders Version 1.118 Component of the following Super Panels: Immunological disorders_SuperPanel	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 1.2656	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 0.87	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 1.121 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 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Green PARN in Fetal anomalies Version 1.370	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 0.35	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
Green PARN in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612