30 Sep 2020
Intellectual disability v3.363
NHP2
Arina Puzriakova Classified gene: NHP2 as Amber List (moderate evidence)
30 Sep 2020
Intellectual disability v3.363
NHP2
Arina Puzriakova Added comment: Comment on list classification: Rating upgraded from Red to Amber as 2/3 cases described in literature present cognitive impairment. This does not yet meet the threshold for inclusion with a Green rating, but may be reviewed if further cases are published.
30 Sep 2020
Intellectual disability v3.363
NHP2
Arina Puzriakova Gene: nhp2 has been classified as Amber List (Moderate Evidence).
30 Sep 2020
Intellectual disability v3.362
NHP2
Arina Puzriakova Phenotypes for gene: NHP2 were changed from Dyskeratosis congenita, autosomal recessive 2, 613987 to Dyskeratosis congenita, autosomal recessive 2, 613987; Høyeraal-Hreidarsson syndrome
30 Sep 2020
Intellectual disability v3.361
NHP2
Arina Puzriakova Publications for gene: NHP2 were set to 25182133; 18523010; 25907943; 20301779
05 Mar 2020
Intellectual disability v3.3
NHP2
Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987, Høyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2018
Intellectual disability v2.468
NHP2
Louise Daugherty Source Victorian Clinical Genetics Services was added to NHP2.
12 Mar 2018
Intellectual disability
NHP2
Ellen McDonagh Added gene to panel