PARN

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PARN in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.18	review	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
Green PARN in COVID-19 research Level 2: Viral research Version 1.142	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Phenotypes Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371 Dyskeratosis congenita, autosomal recessive 6 616353 Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients Combined immunodeficiencies with associated or syndromic features
Green PARN in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Amber PARN in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Green PARN in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Phenotypes Dyskeratosis congenita, autosomal recessive 6 616353 Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371 Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients Combined immunodeficiencies with associated or syndromic features
Amber PARN in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Green PARN in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	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
Green PARN in Cytopenia - NOT Fanconi anaemia Version 3.34 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS London South GLH Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Green PARN in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6
Green PARN in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6
Green PARN in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
Green PARN in Severe Paediatric Disorders Version 1.184	review	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
Green PARN in Pulmonary fibrosis familial Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.7 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371