Cytopenias and congenital anaemias

Gene: NHP2

Green List (high evidence)

Comment on list classification: With addition of the recent paper (PMID:31985013), there are now a total of 3 unrelated cases with dyskeratosis congenita due to biallelic variants in NHP2, as well as supportive in vitro data.

Cases now reach threshold for inclusion and therefore, the rating for NHP2 has been promoted from Amber to Green.

Created: 30 Sep 2020, 12:19 p.m. | Last Modified: 30 Sep 2020, 12:19 p.m.

Panel Version: 1.77

PMID: 31985013 (2020) - Recent paper describing the third case with compound het missense variants (c.182G>C and c.259C>T) in the NHP2 gene. The patient presented with Høyeraal–Hreidarsson syndrome, the severe form of DC, which included features of GDD, microcephaly, cerebellar hypoplasia, lymphopenia, and the triad of nail dysplasia, skin pigmentation, and oral leukoplakia.

Created: 30 Sep 2020, 12:15 p.m. | Last Modified: 30 Sep 2020, 12:15 p.m.

Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, 613987

Publications

• 31985013

Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported in two cases, supporting in vitro data provided.

Created: 9 Mar 2017, 12:25 p.m.

Comment on phenotypes: Inherited Bone Marrow Failure Syndromes

Created: 9 Mar 2017, 12:22 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

• 18523010

Variants in this GENE are reported as part of current diagnostic practice