Bone Marrow Failure
Gene: NHP2

NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 10 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, 12:55 a.m. | Last Modified: 14 Sep 2020, 12:55 a.m.

Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

Publications

Created: 14 Sep 2020, 12:55 a.m.
Last Modified: 14 Sep 2020, 12:55 a.m.
Panel version: 0.110

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

OMIM

606470

Clinvar variants

Variants in NHP2

Penetrance

None

Publications

Panels with this gene