CNTN6

contactin 6
OMIM: 607220, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CNTN6 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
  • congenital hypothyroidism MONDO:0018612
Tags
  • disputed

Red CNTN6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
Tags
  • disputed

Amber CNTN6 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital hypothyroidism MONDO:0018612