Research panel - Severe Paediatric Disorders
Gene: CNTNAP2

CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

In response to the review from Tracy Lester (Genetics laboratory, Oxford UK), the mode of inheritance for CNTNAP2 has been changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal.
Created: 12 Nov 2024, 10:31 a.m. | Last Modified: 12 Nov 2024, 10:31 a.m.

Panel Version: 1.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 12 Nov 2024, 10:31 a.m.
Last Modified: 12 Nov 2024, 10:31 a.m.
Panel version: 1.208

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

It is unclear why this gene has both monoallelic and biallelic inheritance for this panel when it is biallelic only for all other panels. There is a possible association with autism but gene is currently not green for that panel. I suggest inheritance is changed to biallelic only
Created: 10 Apr 2024, 9:10 a.m. | Last Modified: 10 Apr 2024, 9:10 a.m.

Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Apr 2024, 9:10 a.m.
Last Modified: 10 Apr 2024, 9:10 a.m.
Panel version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CNTNAP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Autism susceptibility 15}, 612100 (3) | Cortical dysplasia-focal epilepsy syndrome, 610042 (3) | Pitt-Hopkins like syndrome 1, 610042 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cortical dysplasia-focal epilepsy syndrome, 610042
Pitt-Hopkins like syndrome 1, 610042
{Autism susceptibility 15}, 612100

OMIM

604569

Clinvar variants

Variants in CNTNAP2

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

12 Nov 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CNTNAP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2020, Gel status: 3