Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

I don't know

3 unrelated families with Joubert syndrome reported since 2012.
No functional evidence.
Created: 10 Dec 2019, 6:01 a.m. | Last Modified: 10 Dec 2019, 6:01 a.m.
Panel Version: 0.1150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

14 Jan 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).

14 Jan 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).

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tctn3 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TCTN3. Source Expert list was added to TCTN3. Mode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860 Publications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCTN3 was added gene: TCTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCTN3 was set to Unknown