PARN

poly(A)-specific ribonuclease
OMIM: 604212
PanelMode of inheritanceDetails
7 panels
R-numbers: R91
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6, OMIM:616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6, OMIM:616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
R-numbers: R15
Signed-off version 5.0
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
R-numbers: R421
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371