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Fetal anomalies

Gene: TCTN1

Green List (high evidence)

TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Removed watchlist tag following clinical review by Anna de Burca.
Created: 7 Jan 2019, 9:25 a.m.
Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that TCTN1 is Green on the 'Rare multisystem ciliopathy disorders' panel with Joubert syndrome phenotype, and therefore Green rating is appropriate for this Fetal anomalies panel. 3 cases from the literature to support Green rating: Two Bangladeshi sisters in PMID:21725307 with homozgyous variant in TCTN1. A compound het variant from PMID:26477546 in a male fetus, and PMID:26489806 report an additional compound het case.
Created: 7 Jan 2019, 9:24 a.m.
'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 9:03 p.m.
In the original PAGE file: rated as Probable for JOUBERT SYNDROME AND RELATED DISORDERS, and rated as Confirmed in the Additional gene list.
Created: 8 Nov 2018, 4:46 p.m.

History Filter Activity

7 Jan 2019, Gel status: 3

Removed Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist was removed from gene: TCTN1.

7 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tctn1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TCTN1.

8 Nov 2018, Gel status: 2

Added New Source, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Source PAGE Additional Gene List was added to TCTN1. Added phenotypes Joubert syndrome 13 614173 for gene: TCTN1

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TCTN1 was added gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS