NOP10

NOP10 ribonucleoprotein
OMIM: 606471, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber NOP10 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	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 1.1902	review	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	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 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Red NOP10 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Dyskeratosis congenita autosomal recessive 1
Red NOP10 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	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 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita