NHP2

NHP2 ribonucleoprotein
OMIM: 606470, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red NHP2 in ClinGen Gene Validity Curations Version 0.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes Dyskeratosis Congenita OrphaNet ORPHA1775 OMIM 613987
Green NHP2 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Green NHP2 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita, autosomal recessive 2 613987 Combined immunodeficiencies with associated or syndromic features 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
Red NHP2 in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert List Phenotypes Dyskeratosis Congenita
Red NHP2 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Dyskeratosis congenita, autosomal recessive 2 (613987)
Green NHP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, autosomal recessive 2 613987 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
Green NHP2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987
Green NHP2 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dyskeratosis Congenita
Green NHP2 in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.4 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 Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Amber NHP2 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2
Green NHP2 in Cytopenia - NOT Fanconi anaemia Version 3.32 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987
Amber NHP2 in Fetal anomalies Version 3.156 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Green NHP2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987
Amber NHP2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.535 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Gene2Phenotype Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Høyeraal-Hreidarsson syndrome
Green NHP2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987
Green NHP2 in Pulmonary fibrosis familial Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.7 Latest signed off version: v1.3 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 2, OMIM:613987