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Early-onset Parkinson disease

Gene: SLC18A2

Green List (high evidence)
SLC18A2 (solute carrier family 18 member A2)
EnsemblGeneIds (GRCh38): ENSG00000165646
EnsemblGeneIds (GRCh37): ENSG00000165646
OMIM: 193001, Gene2Phenotype
SLC18A2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported, potential treatment implications.
Created: 19 Jul 2022, 8:31 a.m. | Last Modified: 19 Jul 2022, 8:31 a.m.
Panel Version: 0.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinsonism-dystonia, infantile, 2 , MIM# 618049

Publications

Created: 19 Jul 2022, 8:31 a.m.
Last Modified: 19 Jul 2022, 8:31 a.m.
Panel version: 0.159

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism, OMIM 618049

Publications

Created: 17 Jul 2022, 2:12 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Parkinsonism-dystonia, infantile, 2 , MIM# 618049
  • Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism
OMIM
193001
Clinvar variants
Variants in SLC18A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc18a2 has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC18A2 were changed from Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism, OMIM 618049 to Parkinsonism-dystonia, infantile, 2 , MIM# 618049; Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism

19 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC18A2 were set to PMID: 23363473, 33983693

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc18a2 has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: SLC18A2 was added gene: SLC18A2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A2 were set to PMID: 23363473, 33983693 Phenotypes for gene: SLC18A2 were set to Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism, OMIM 618049 Review for gene: SLC18A2 was set to GREEN