Arthrogryposis
Gene: CNTNAP1EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 9 panels
1 review
Alice Gardham (Genomics England)
7 patients from 4 families reported. Probable DD on G2PCreated: 5 Jan 2017, 11:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 7 616286
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lethal congenital contracture syndrome 7, OMIM:616286
- OMIM
- 602346
- Clinvar variants
- Variants in CNTNAP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNTNAP1 were changed from Lethal congenital contracture syndrome 7 616286 to Lethal congenital contracture syndrome 7, OMIM:616286
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNTNAP1 were set to 24319099
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)CNTNAP1 was added to Arthrogryposispanel. Sources: Literature
Created
Alice Gardham (Genomics England)CNTNAP1 was created by agardham