Ductal plate malformation
Gene: NOP10EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
1 review
Ivone Leong (Genomics England Curator)
Demoved from amber to red as insufficient evidence.Created: 12 Nov 2018, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 1, 224230
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1 (224230) to Dyskeratosis congenita, autosomal recessive 1, 224230
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoved from amber to red as i
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to NOP10. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NOP10 was added gene: NOP10 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 (224230)