PARN

poly(A)-specific ribonuclease
OMIM: 604212
PanelMode of inheritanceDetails
6 panels
R-numbers: R91
Signed-off version 1.29
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6, 616353 Dyskeratosis congenita, autosomal recessive 6
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6, 616353
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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