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Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova Tag for-review was removed from gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova commented on gene: NHP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.56 NHP2 Arina Puzriakova Source Expert Review Green was added to NHP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.23 NHP2 Arina Puzriakova Phenotypes for gene: NHP2 were changed from 613987 Dyskeratosis congenita, autosomal recessive 2; Dyskeratosis congenita, autosomal recessive 2, 613987; Dyskeratosis congenita, autosomal recessive 2,613987 to Dyskeratosis congenita, autosomal recessive 2, 613987
Cytopenia - NOT Fanconi anaemia v1.22 NHP2 Arina Puzriakova Publications for gene: NHP2 were set to 18523010
Cytopenia - NOT Fanconi anaemia v1.21 NHP2 Arina Puzriakova Tag for-review tag was added to gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.21 NHP2 Arina Puzriakova Classified gene: NHP2 as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.21 NHP2 Arina Puzriakova Added comment: 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.
Cytopenia - NOT Fanconi anaemia v1.21 NHP2 Arina Puzriakova Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v1.6 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.74 NHP2 Louise Daugherty Classified gene: NHP2 as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.74 NHP2 Louise Daugherty Added comment: 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.
Cytopenia - NOT Fanconi anaemia v0.74 NHP2 Louise Daugherty Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v0.73 NHP2 Louise Daugherty commented on gene: NHP2: Discrepant reviews for NHP2. To be discussed at July workshop to agree rating
Cytopenia - NOT Fanconi anaemia v0.31 NHP2 Louise Daugherty commented on gene: NHP2: 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
Cytopenia - NOT Fanconi anaemia v0.30 NHP2 Steve Keeney reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.29 NHP2 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
Cytopenia - NOT Fanconi anaemia v0.27 NHP2 Louise Daugherty Source North West GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.11 NHP2 Louise Daugherty commented on gene: NHP2: 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
Cytopenia - NOT Fanconi anaemia v0.10 NHP2 Frances Smith reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.9 NHP2 Louise Daugherty Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
Cytopenia - NOT Fanconi anaemia v0.7 NHP2 Louise Daugherty Source London South GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.6 NHP2 Louise Daugherty reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.5 NHP2 Carl Fratter reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.4 NHP2 Louise Daugherty Source NHS GMS was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.3 NHP2 Louise Daugherty Source Expert Review Amber was added to NHP2.
Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal recessive 2,613987 for gene: NHP2
Publications for gene NHP2 were changed from to 18523010
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.2 NHP2 Louise Daugherty gene: NHP2 was added
gene: NHP2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NHP2 was set to