Activity

Filter

Cancel
Date Panel Item Activity
6 actions
BabyScreen+ newborn screening v0.1962 GH1 Zornitza Stark Marked gene: GH1 as ready
BabyScreen+ newborn screening v0.1962 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1962 GH1 Zornitza Stark Classified gene: GH1 as Green List (high evidence)
BabyScreen+ newborn screening v0.1962 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1961 GH1 Zornitza Stark Tag treatable tag was added to gene: GH1.
Tag endocrine tag was added to gene: GH1.
BabyScreen+ newborn screening v0.1961 GH1 Zornitza Stark gene: GH1 was added
gene: GH1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650
Review for gene: GH1 was set to GREEN
Added comment: Well established gene-disease association. Congenital onset.

Treatment: growth hormone.

Non-genetic confirmatory test: growth hormone stimulation test
Sources: Expert list