Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Marked gene: HID1 as ready
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.12 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Sources: Literature