Hereditary Pigmentary Disorders

Gene: NHP2

Green List (high evidence)

NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features. Three unrelated families reported.
Created: 14 Sep 2020, 3:51 a.m. | Last Modified: 14 Sep 2020, 3:51 a.m.
Panel Version: 0.4409

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • dyskeratosis congenita, autosomal recessive 2 MONDO:0013519
OMIM
606470
Clinvar variants
Variants in NHP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nhp2 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nhp2 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NHP2 was added gene: NHP2 was added to Hereditary Pigmentary Disorders. Sources: Literature Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010; 31985013 Phenotypes for gene: NHP2 were set to dyskeratosis congenita, autosomal recessive 2 MONDO:0013519