Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Intellectual disability - microarray and sequencing v3.1520 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Intellectual disability - microarray and sequencing v3.1520 ISCA-37468-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Intellectual disability - microarray and sequencing v2.800 ISCA-37468-Loss Louise Daugherty Mode of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v2.799 ISCA-37468-Loss Louise Daugherty Mode of inheritance for Region: ISCA-37468-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v2.398 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements