NOP10

NOP10 ribonucleoprotein
OMIM: 606471, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green NOP10 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma
Green NOP10 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 GRID V2.0 Victorian Clinical Genetics Services ESID Registry 20171117 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita Dyskeratosis congenita 1 Dyskeratosis congenita, autosomal recessive 1 224230 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 Hoyeraal-Hreidarsson syndrome
Amber NOP10 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert List Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Red NOP10 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Red NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Red NOP10 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Amber NOP10 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, autosomal recessive 1 224230 Dyskeratosis congenita 1 Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome 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
Red NOP10 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 1 224230
Amber NOP10 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Red NOP10 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Green NOP10 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma
Amber NOP10 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber North West GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230
Green NOP10 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes NOP10-related dyskeratosis congenita, OMIM:224230
Red NOP10 in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis
Green NOP10 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 1, OMIM:224230