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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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Lethal congenital contracture syndrome 7 and hypomyelinating neuropathy, congenital 3 represent a phenotypic spectrum resulting from mutations in the CNTNAP1 gene.
Congenital hypomyelinating neuropathy-3 is characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk.
Lethal congenital contracture syndrome-7 is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period.
Created: 6 Aug 2024, 7:28 a.m. | Last Modified: 6 Aug 2024, 7:28 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 7, MIM # 616286; Hypomyelinating neuropathy, congenital, 3, MIM # 618186

Publications

Created: 6 Aug 2024, 7:28 a.m.
Last Modified: 6 Aug 2024, 7:28 a.m.
Panel version: 1.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 7, MIM # 616286
  • Hypomyelinating neuropathy, congenital, 3, MIM # 618186
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, 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).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTNAP1 were changed from Lethal congenital contracture syndrome 7, 616286 (3) to Lethal congenital contracture syndrome 7, MIM # 616286; Hypomyelinating neuropathy, congenital, 3, MIM # 618186

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTNAP1 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: CNTNAP1 was added gene: CNTNAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)