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Intellectual disability syndromic and non-syndromic

Gene: CNTN3

Red List (low evidence)

CNTN3 (contactin 3)
EnsemblGeneIds (GRCh38): ENSG00000113805
EnsemblGeneIds (GRCh37): ENSG00000113805
OMIM: 601325, Gene2Phenotype
CNTN3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported as part of a study identifying multiple novel gene candidates.
Created: 1 Feb 2020, 5:04 a.m. | Last Modified: 1 Feb 2020, 5:04 a.m.
Panel Version: 0.1864

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, CNTN3-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CNTN3-related
OMIM
601325
Clinvar variants
Variants in CNTN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTN3 were changed from to Neurodevelopmental disorder, MONDO:0700092, CNTN3-related

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn3 has been classified as Red List (Low Evidence).

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTN3 were set to

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn3 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTN3 was added gene: CNTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTN3 was set to Unknown