NOP10

NOP10 ribonucleoprotein
OMIM: 606471, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber NOP10 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
Amber NOP10 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
Red NOP10 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Red NOP10 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Red NOP10 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 Red Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Red NOP10 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 NOP10 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