Microcephaly
Gene: COASY
COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
6 patients from 3 families published with microcephaly. One paper (2018, 30089828) describes two families, one consanguineous with hom splice region variant c.1486-3 C>G, the other family with a compound heterozygous c.[1549_1550delAG]; [1486-3 C>G] genotype. An earlier paper (2017, 28489334) describes an additional family with two affected siblings compound het c.1495C > T; p.(R499C) and c.C641T; p(A214V) variants.
Sources: LiteratureCreated: 2 Sep 2020, 7:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 12, MIM#618266
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Pontocerebellar hypoplasia, type 12, MIM#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
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: COASY was added gene: COASY was added to Microcephaly. Sources: Literature Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 30089828; 28489334 Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia, type 12, MIM#618266 Review for gene: COASY was set to GREEN