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Mendeliome

Gene: CNTN6

Amber List (moderate evidence)

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

2 reviews

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.
Created: 28 Feb 2025, 10:41 a.m. | Last Modified: 28 Feb 2025, 10:41 a.m.
Panel Version: 1.2328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism MONDO:0018612

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Created: 12 Dec 2019, 12:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, CNTN6-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
  • congenital hypothyroidism MONDO:0018612
Tags
disputed
OMIM
607220
Clinvar variants
Variants in CNTN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CNTN6 were changed from Neurodevelopmental disorder, MONDO:0700092, CNTN6-related to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related; congenital hypothyroidism MONDO:0018612

28 Feb 2025, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269

28 Feb 2025, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CNTN6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

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).

13 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: CNTN6.

26 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTN6 were changed from Intellectual disability; autism; Tourette syndrome; schizophrenia to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn6 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTN6 was added gene: CNTN6 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269 Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia Review for gene: CNTN6 was set to RED