NHP2

NHP2 ribonucleoprotein
OMIM: 606470, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NHP2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 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 1.2302	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 0.131	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 Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 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 1.63	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 1.29	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 1.313	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 0.33	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita