30 Sep 2020
Intellectual disability - microarray and sequencing v3.363
NHP2
Arina Puzriakova Classified gene: NHP2 as Amber List (moderate evidence)
30 Sep 2020
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.363
NHP2
Arina Puzriakova Gene: nhp2 has been classified as Amber List (Moderate Evidence).
30 Sep 2020
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.361
NHP2
Arina Puzriakova Publications for gene: NHP2 were set to 25182133; 18523010; 25907943; 20301779
05 Mar 2020
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v2.468
NHP2
Louise Daugherty Source Victorian Clinical Genetics Services was added to NHP2.
12 Mar 2018
Intellectual disability - microarray and sequencing
NHP2
Ellen McDonagh Added gene to panel