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Ataxia - paediatric

Gene: TCTN3

Green List (high evidence)
TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rare cause of JBS, I can only find two families reported plus one with OFD. Ataxia specifically described in one of the JBS individuals.
Created: 16 Apr 2020, 10:47 p.m. | Last Modified: 16 Apr 2020, 10:47 p.m.
Panel Version: 0.85

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860

Publications

Created: 16 Apr 2020, 10:47 p.m.
Last Modified: 16 Apr 2020, 10:47 p.m.
Panel version: 0.85

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn3 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18 to Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860

16 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN3 were set to

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TCTN3 was added gene: TCTN3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to Joubert syndrome 18