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Intellectual disability syndromic and non-syndromic

Gene: CNTN4

Red List (low evidence)

CNTN4 (contactin 4)
EnsemblGeneIds (GRCh38): ENSG00000144619
EnsemblGeneIds (GRCh37): ENSG00000144619
OMIM: 607280, Gene2Phenotype
CNTN4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cytogenetic evidence only to link this gene to ID/autism; gene also associated with SCA, but subsequently refuted.
Created: 27 Nov 2019, 8:49 p.m. | Last Modified: 27 Nov 2019, 8:49 p.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; SCA

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability
  • SCA
OMIM
607280
Clinvar variants
Variants in CNTN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn4 has been classified as Red List (Low Evidence).

30 Nov 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA

30 Nov 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTN4 were set to

30 Nov 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn4 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: CNTN4 was added gene: CNTN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTN4 was set to Unknown