Congenital ophthalmoplegia
Gene: CHN1EnsemblGeneIds (GRCh38): ENSG00000128656
EnsemblGeneIds (GRCh37): ENSG00000128656
OMIM: 118423, Gene2Phenotype
CHN1 is in 2 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
Gain-of function aetiology: PMID 18653847 - in vitro evidence that gain-of-function heterozygous missense CHN1 mutations in patients with Duane retraction syndrome increase α2-chimaerin RacGAP activity; 21555619 - separate CHN1 mutations 2 families predicted to result in its hyperactivation.
Sources: LiteratureCreated: 2 Nov 2020, 12:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Duane retraction syndrome 2, 604356
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Duane retraction syndrome 2, 604356
- OMIM
- 118423
- Clinvar variants
- Variants in CHN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: CHN1 was added gene: CHN1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: CHN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHN1 were set to PMID 33004823; 18653847; 21555619 Phenotypes for gene: CHN1 were set to Duane retraction syndrome 2, 604356 Review for gene: CHN1 was set to GREEN