PARN

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PARN in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.12

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 1.130

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 1.29

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 Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.33
Latest signed off version: v2.5 (4 Mar 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 Primary immunodeficiency


Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

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 2.21
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 2.34
Latest signed off version: v2.2 (18 Feb 2020)

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 1.70
Latest signed off version: v1.29 (15 Oct 2020)

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 1.900
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6

Green PARN in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.127

    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 0.10

    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