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Hereditary Neuropathy - complex

Gene: CNTNAP1

Green List (high evidence)
CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Suggestive that homozygous nonsense and frameshift mutations have a more severe disorder (PMID: 29511323)

PMID: 27881385
4 patients from 2 families with neuropathy phenotypes and muscle biopsies that showed abnormally myelin sheath. All individuals were compound heterozygotes

PMID: 29511323
7 individuals from unrelated families with peripheral neuropathy phenotypes and either a homozygous or impound heterozygous mutation in CNTNAP1.
Created: 23 May 2023, 5:29 a.m. | Last Modified: 23 May 2023, 5:29 a.m.
Panel Version: 0.149

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186)

Publications

Created: 23 May 2023, 5:29 a.m.
Last Modified: 23 May 2023, 5:29 a.m.
Panel version: 0.149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049
  • MIM#618186)
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap1 has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186)

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTNAP1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186