Arthrogryposis
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
5 more families with PCH and arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.
c.1486-3C>G is the variant identified in all familiesCreated: 3 May 2022, 10:59 p.m. | Last Modified: 3 May 2022, 11:02 p.m.
Panel Version: 0.341
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 12 MIM#618266
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA.
Sources: Expert listCreated: 11 Jul 2020, 3:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia; microcephaly; arthrogryposis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Pontocerebellar hypoplasia
- microcephaly
- arthrogryposis
- OMIM
- 609855
- Clinvar variants
- Variants in COASY
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Microcephaly
- Dystonia - complex
- Arthrogryposis
- Mendeliome
- Brain Calcification
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Vitamin metabolism disorders
- Early-onset Parkinson disease
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: COASY were set to 30089828
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: coasy has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COASY was added gene: COASY was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 30089828 Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia; microcephaly; arthrogryposis Review for gene: COASY was set to AMBER