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Additional findings_Paediatric

Gene: NHP2

Red List (low evidence)

NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Dyskeratosis congenita
OMIM
606470
Clinvar variants
Variants in NHP2
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHP2 was added gene: NHP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to Dyskeratosis congenita