Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability syndromic and non-syndromic v0.6793 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease MONDO:0010327 to HSD10 mitochondrial disease MONDO:0010327
Intellectual disability syndromic and non-syndromic v0.6792 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Intellectual disability syndromic and non-syndromic v0.6792 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6792 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease MONDO:0010327
Intellectual disability syndromic and non-syndromic v0.6791 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Intellectual disability syndromic and non-syndromic v0.6790 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from 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 syndromic and non-syndromic v0.6222 HSD17B10 Sangavi Sivagnanasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22132097, 17618155; Phenotypes: HSD10 mitochondrial disease MONDO:0010327; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HSD17B10 was set to Unknown