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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. |
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| 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 |
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