Early-onset Parkinson disease
Gene: EIF2AK2EnsemblGeneIds (GRCh38): ENSG00000055332
EnsemblGeneIds (GRCh37): ENSG00000055332
OMIM: 176871, Gene2Phenotype
EIF2AK2 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 4 of the individuals reported had parkinsonian features.Created: 20 Jul 2022, 12:22 a.m. | Last Modified: 20 Jul 2022, 12:22 a.m.
Panel Version: 0.195
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 17 Jul 2022, 3:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations; OMIM 618877
Publications
- PMID: 32197074
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877
- Neurodevelopmental Syndrome
- Developmental delays
- Ataxia
- Parkinsonism
- White matter alterations
- OMIM
- 176871
- Clinvar variants
- Variants in EIF2AK2
- Penetrance
- None
- Publications
-
- PMID: 32197074
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eif2ak2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EIF2AK2 were changed from Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations; OMIM 618877 to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EIF2AK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eif2ak2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: EIF2AK2 was added gene: EIF2AK2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to PMID: 32197074 Phenotypes for gene: EIF2AK2 were set to Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations; OMIM 618877 Review for gene: EIF2AK2 was set to GREEN