Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Pituitary hormone deficiency v1.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Pituitary hormone deficiency v0.102 TBC1D32 Chirag Patel Publications for gene: TBC1D32 were set to 32573025; 32060556
Pituitary hormone deficiency v0.101 TBC1D32 Chirag Patel reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Phenotypes: Orofacial digital syndrome type IX, MIM#258865; Mode of inheritance: None
Pituitary hormone deficiency v0.101 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.95 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Classified gene: TBC1D32 as Green List (high evidence)
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.93 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.3 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Review for gene: TBC1D32 was set to AMBER
Added comment: Two families reported with syndromic hypopituitarism and bi-allelic variants in this gene.
Sources: Literature