Limb disorders
Gene: TCTN2Comment 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.Created: 2 Dec 2018, 11:11 p.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and Gene2Phenotype.Created: 15 Oct 2018, 3:04 p.m.
Comment when marking as ready: 2 cases of polydactyl in literature plus mouse model.Created: 11 Oct 2018, 3:58 p.m.
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).Created: 11 Oct 2018, 3:57 p.m.
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.Created: 11 Oct 2018, 3:51 p.m.
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.Created: 11 Oct 2018, 3:50 p.m.
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.Created: 11 Oct 2018, 3:46 p.m.
Additional variable features of Joubert Syndrome include postaxial polydactyly. Meckel-Gruber syndrome (MGS) is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia.Created: 11 Oct 2018, 3:45 p.m.
Tag curated_removed tag was added to gene: TCTN2.
Rebecca Foulger: Additional variable features o
Gene: tctn2 has been removed from the panel.
Source Expert Review Removed was added to TCTN2. Rating Changed from Green List (high evidence) to No List (delete)
Mode of inheritance for gene: TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tctn2 has been classified as Green List (High Evidence).
Gene: tctn2 has been classified as Green List (High Evidence).
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
Publications for gene: TCTN2 were set to 25118024; 21565611
Publications for gene: TCTN2 were set to
Phenotypes for gene: TCTN2 were changed from Polydactyly to Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly
TCTN2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TCTN2 was created by Ellen McDonagh