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Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Joubert syndrome and other neurological ciliopathies v0.63 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.63 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee changed review comment from: Weak evidence supporting gene as causative of JS.


PMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.; to: Weak evidence supporting gene as causative of JS.

PMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee Deleted their review
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 25492405, 21258341; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown