Genomics England

PARN

poly(A)-specific ribonuclease

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cytopenia - NOT Fanconi anaemia 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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal recessive 6
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal recessive 6
Green in Haematological malignancies cancer susceptibility 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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Pulmonary fibrosis familial 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