Cytopenia - NOT Fanconi anaemia

Gene: NHP2

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.

Panel Version: 1.57

Comment on list classification: With addition of the recent paper flagged by Zornitza Stark (PMID:31985013), there is 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, NHP2 should be promoted from Amber to Green at the next major review.

Created: 30 Sep 2020, 11:27 a.m. | Last Modified: 30 Sep 2020, 11:27 a.m.

Panel Version: 1.21

Green List (high evidence)

Three unrelated families reported.

Created: 14 Sep 2020, 12:57 a.m. | Last Modified: 14 Sep 2020, 12:57 a.m.

Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

Publications

• 18523010
• 31985013

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

I don't know

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, 613987

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.

Created: 8 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
613987 Dyskeratosis congenita, autosomal recessive 2

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

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.

Created: 22 Jul 2019, 12:48 p.m. | Last Modified: 22 Jul 2019, 12:48 p.m.

Panel Version: 0.74

Discrepant reviews for NHP2. To be discussed at July workshop to agree rating

Created: 22 Jul 2019, 12:47 p.m. | Last Modified: 22 Jul 2019, 12:47 p.m.

Panel Version: 0.73

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 613987; PMID(s): none submitted

Created: 18 Feb 2019, 2:57 p.m.

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; PMID(s): 18523010

Created: 8 Feb 2019, 1:43 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 2,613987; PMID(s): 18523010

Created: 6 Feb 2019, 3:13 p.m.

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 3:12 p.m.

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