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Severe Paediatric Disorders

Gene: CNTNAP2

Green List (high evidence)

CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 6 panels

1 review

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

Details

Mode of Inheritance
BOTH monoallelic and 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
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CNTNAP2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism susceptibility 15}, 612100; Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042 for gene: CNTNAP2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CNTNAP2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CNTNAP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CNTNAP2 was added gene: CNTNAP2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CNTNAP2 was set to