Cytopenias and congenital anaemias
Gene: NHP2
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
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 SyndromesCreated: 9 Mar 2017, 12:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: nhp2 has been classified as Green List (High Evidence).
Phenotypes for gene: NHP2 were changed from Dyskeratosis congenita, autosomal recessive 2 613987 to Dyskeratosis congenita, autosomal recessive 2, 613987
Publications for gene: NHP2 were set to 18523010
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for NHP2 were set to 18523010
Phenotypes for NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 613987
NHP2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
NHP2 was created by LouiseD