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  2. Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
  3. CNTNAP2
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Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly

Gene: CNTNAP2

Green List (high evidence)
CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.
Sources: Expert Review
Created: 16 Nov 2021, 1:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

Publications

Created: 16 Nov 2021, 1:57 p.m.

Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap2 has been classified as Green List (High Evidence).

16 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap2 has been classified as Green List (High Evidence).

16 Nov 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTNAP2 was added gene: CNTNAP2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Expert Review Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP2 were set to 16571880; 19896112; 27439707 Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Review for gene: CNTNAP2 was set to GREEN