NHP2

NHP2 ribonucleoprotein
OMIM: 606470, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green NHP2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Green NHP2 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Green NHP2 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Red NHP2 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519
Green NHP2 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2 MIM# 613987 Shortened telomeres Leukoplakia Nail dystrophy Bone marrow failure Pancytopaenia reticulate skin pigmentation Thrombocytopaenia recurrent opportunistic infections
Amber NHP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Høyeraal-Hreidarsson syndrome
Red NHP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Dyskeratosis congenita
Red NHP2 in Red cell disorders Level 2: Haematological disorders Version 1.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Red NHP2 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Høyeraal-Hreidarsson syndrome
Green NHP2 in IBMDx study Version 0.38	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Red NHP2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita
Green NHP2 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes dyskeratosis congenita, autosomal recessive 2 MONDO:0013519