Cerebellar and Pontocerebellar Hypoplasia
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
3 reviews
Ain Roesley (Victorian Clinical Genetics Services)
5 more families. But 1 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, 10:54 p.m. | Last Modified: 3 May 2022, 10:54 p.m.
Panel Version: 1.47
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
Alison Yeung (Victorian Clinical Genetics Services)
Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia.Created: 20 Apr 2020, 2:58 a.m. | Last Modified: 20 Apr 2020, 2:58 a.m.
Panel Version: 0.33
Elena Savva (Victorian Clinical Genetics Services)
Emerging genotype-phenotype association:
PMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher.
PMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy
PMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy
Summary:
If residual activity -> NBIA phenotype, no cerebellar issues
If completely or near null - pontocerebellar hypoplasia
Sources: Expert ReviewCreated: 20 Apr 2020, 2:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 6 615643
- Pontocerebellar hypoplasia, type 12 618266
- 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 PMID: 30089828; 27021474; 24360804
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
Alison Yeung (Victorian Clinical Genetics Services)Gene: coasy has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: coasy has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: COASY was added gene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 Review for gene: COASY was set to AMBER