This Panel is marked as Internal
Anaemias and red cell disorders
Gene: NOP10
NOP10 (NOP10 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal recessive 1, 224230
- Dyskeratosis Congenita, Recessive
- Dyskeratosis Congenita, Autosomal Recessive, 1
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ductal plate malformation
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Haematological malignancies cancer susceptibility
- Proteinuric renal disease
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)NOP10 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen NOP10 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NOP10 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NOP10 was created by ellenmcdonagh