Congenital hypothyroidism

Gene: CNTN6

Amber List (moderate evidence)

CNTN6 (contactin 6)
EnsemblGeneIds (GRCh38): ENSG00000134115
EnsemblGeneIds (GRCh37): ENSG00000134115
OMIM: 607220, Gene2Phenotype
CNTN6 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 probands with CH, 1 with a homozygous missense & 1 with compound het missense variants. Supporting in vitro functional assays.
Sources: Literature
Created: 28 Feb 2025, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism MONDO:0018612

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital hypothyroidism MONDO:0018612
OMIM
607220
Clinvar variants
Variants in CNTN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn6 has been classified as Amber List (Moderate Evidence).

28 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn6 has been classified as Amber List (Moderate Evidence).

28 Feb 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CNTN6 was added gene: CNTN6 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: CNTN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN6 were set to 38183624 Phenotypes for gene: CNTN6 were set to congenital hypothyroidism MONDO:0018612 Review for gene: CNTN6 was set to AMBER