1. Panels
  2. Prepair 1000+
  3. CNTNAP2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

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.
c.3709delG founder variant in Old Order Amish families.
Created: 14 Oct 2024, 5:02 a.m. | Last Modified: 14 Oct 2024, 5:02 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins like syndrome 1 MIM#610042

Publications

Created: 14 Oct 2024, 5:02 a.m.
Last Modified: 14 Oct 2024, 5:02 a.m.
Panel version: 1.420

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, 610042 (3) to Pitt-Hopkins like syndrome 1 MIM#610042

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CNTNAP2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTNAP2 was added gene: CNTNAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)