1. Panels
  2. Ataxia - paediatric
  3. TCTN2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: TCTN2

Green List (high evidence)
TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, ataxia is part of the phenotype.
Created: 16 Apr 2020, 11:04 p.m. | Last Modified: 16 Apr 2020, 11:04 p.m.
Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 24, MIM# 616654

Publications

Created: 16 Apr 2020, 11:04 p.m.
Last Modified: 16 Apr 2020, 11:04 p.m.
Panel version: 0.100

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn2 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: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654

16 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN2 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: TCTN2 was added gene: TCTN2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to Joubert syndrome 24