TCTN1

tectonic family member 1
OMIM: 609863, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TCTN1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Joubert syndrome 13, MIM# 614173
  • MONDO:0013608

Green TCTN1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Joubert syndrome 13, MIM# 614173
  • MONDO:0013608

Green TCTN1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Joubert syndrome 13, MIM# 614173
  • MONDO:0013608

Green TCTN1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Joubert syndrome 13, MIM# 614173

Red TCTN1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Joubert syndrome