Arthrogryposis
Gene: CNTN1EnsemblGeneIds (GRCh38): ENSG00000018236
EnsemblGeneIds (GRCh37): ENSG00000018236
OMIM: 600016, Gene2Phenotype
CNTN1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Amber on other panels as some additional variants reported by diagnostic laboratories in ClinVar.Created: 23 Mar 2023, 12:35 a.m. | Last Modified: 23 Mar 2023, 12:35 a.m.
Panel Version: 0.391
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 12, OMIM #612540
Chirag Patel (Genetic Health Queensland)
Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures. One family reported with homozygous mutation in the CNTN1 gene.
Sources: Expert listCreated: 22 Mar 2023, 11:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 12, OMIM #612540
Publications
- PMID:19026398
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Congenital myopathy 12, OMIM #612540
- OMIM
- 600016
- Clinvar variants
- Variants in CNTN1
- Penetrance
- None
- Publications
-
- PMID:19026398
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CNTN1 was added gene: CNTN1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to PMID:19026398 Phenotypes for gene: CNTN1 were set to Congenital myopathy 12, OMIM #612540 Review for gene: CNTN1 was set to RED