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Fetal anomalies v0.3330 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Fetal anomalies v0.3330 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3330 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome
Fetal anomalies v0.3329 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Fetal anomalies v0.3328 NHP2 Zornitza Stark Classified gene: NHP2 as Red List (low evidence)
Fetal anomalies v0.3328 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3327 NHP2 Zornitza Stark changed review comment from: Three individuals reported altogether, of those two had DD/ID.; to: Three individuals reported altogether, one of whom had the more severe HH phenotype.
Fetal anomalies v0.3327 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: RED
Fetal anomalies v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2