Cerebral Palsy
Gene: EARS2EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 11 panels
1 review
Danielle Ariti (University of Melbourne)
Two individuals in CP cohort reported with bi-allelic EARS2 variants.
One of the individuals presented with severe ID, ASD and seizures on top of impaired motor symptoms.
Overlapping CP phenotype with COXPD12- mitochondrial neurologic disorder characterised by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression. Severe cases can present with Dystonia, Spastic tetraparesis and/or lack of speech.
Sources: Expert listCreated: 21 Sep 2021, 5:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy; Combined oxidative phosphorylation deficiency 12 MIM# 614924
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Combined oxidative phosphorylation deficiency 12 MIM# 614924
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- 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: ears2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ears2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: EARS2 was added gene: EARS2 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 33528536; 34364746 Phenotypes for gene: EARS2 were set to Cerebral Palsy; Combined oxidative phosphorylation deficiency 12 MIM# 614924 Review for gene: EARS2 was set to GREEN