Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v3.363 NHP2 Arina Puzriakova Classified gene: NHP2 as Amber List (moderate evidence)
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.
Intellectual disability - microarray and sequencing v3.363 NHP2 Arina Puzriakova Gene: nhp2 has been classified as Amber List (Moderate Evidence).
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
Intellectual disability - microarray and sequencing v3.361 NHP2 Arina Puzriakova Publications for gene: NHP2 were set to 25182133; 18523010; 25907943; 20301779
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
Intellectual disability - microarray and sequencing v2.468 NHP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHP2.
Intellectual disability - microarray and sequencing NHP2 Ellen McDonagh Added gene to panel