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Limb disorders v2.36 TCTN2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2.
Limb disorders v0.323 TCTN2 Eleanor Williams Classified gene: TCTN2 as No list
Limb disorders v0.323 TCTN2 Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Limb disorders v0.323 TCTN2 Eleanor Williams Gene: tctn2 has been removed from the panel.
Limb disorders v0.278 TCTN2 Eleanor Williams Source Expert Review Removed was added to TCTN2.
Rating Changed from Green List (high evidence) to No List (delete)
Limb disorders v0.218 TCTN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and Gene2Phenotype.
Limb disorders v0.218 TCTN2 Rebecca Foulger Mode of inheritance for gene: TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.217 TCTN2 Rebecca Foulger Marked gene: TCTN2 as ready
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment when marking as ready: 2 cases of polydactyl in literature plus mouse model.
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.217 TCTN2 Rebecca Foulger Classified gene: TCTN2 as Green List (high evidence)
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 2 cases of polydactyly in literature as part of Joubert syndrome (PMID:25118024) and Meckel-Gruber syndrome (PMID:21462283) PLUS mouse model of polydactyly (PMID:21565611).
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.216 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly to Polydactyly; Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders v0.215 TCTN2 Rebecca Foulger commented on gene: TCTN2: Sang et al (2011, PMID:21565611) report a mouse model of Tctn2-/- embryos that exhibit defects including single hindlimb preaxial polydactyly, either bilaterally or unilaterally.
Limb disorders v0.215 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to 25118024; 21565611
Limb disorders v0.214 TCTN2 Rebecca Foulger commented on gene: TCTN2: In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011, PMID:21462283) identified homozygosity for a splice site mutation in the TCTN2 gene (1506-2A-G). Phenotypes included polydactyly in all recorded patients.
Limb disorders v0.214 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2: Huppke et al. (2015, PMID:25118024) reported a 7.5-year-old Turkish boy, born of consanguineous parents, with a neurodevelopmental disorder consistent with Joubert syndrome. At birth, the patient was noted to have postaxial hexadactyly of all 4 extremities. The authors identified a homozygous splice site mutation in the TCTN2 gene (c.1235-1G-A, NM_024809.4). The unaffected mother was heterozygous for the variant.
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2
Limb disorders v0.213 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly to Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders TCTN2 Ellen McDonagh Added gene to panel