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Early-onset Parkinson disease

Gene: C9orf3

Green List (high evidence)
C9orf3 (chromosome 9 open reading frame 3)
EnsemblGeneIds (GRCh38): ENSG00000148120
EnsemblGeneIds (GRCh37): ENSG00000148120
C9orf3 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HGNC approved name is AOPEP.

Dystonia-parkinsonism reported in at least 2 pedigrees.
Created: 20 Jul 2022, 3:17 a.m. | Last Modified: 20 Jul 2022, 3:17 a.m.
Panel Version: 0.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 31, MIM# 619565

Publications

Created: 20 Jul 2022, 3:17 a.m.
Last Modified: 20 Jul 2022, 3:17 a.m.
Panel version: 0.208

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Created: 19 Jul 2022, 10:51 a.m.
Last Modified: 19 Jul 2022, 10:51 a.m.
Panel version: 0.189

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 31, MIM# 619565
  • Childhood/Adolescence onset generalised dystonia
  • Dystonia parkinsonism
  • Zech-Boesch Syndrome
Tags
new gene name
Clinvar variants
Variants in C9orf3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C9orf3.

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c9orf3 has been classified as Green List (High Evidence).

20 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C9orf3 were changed from Dystonia-31; Childhood/Adolescence onset generalised dystonia; Dystonia parkinsonism; Zech-Boesch Syndrome; OMIM 619565 to Dystonia 31, MIM# 619565; Childhood/Adolescence onset generalised dystonia; Dystonia parkinsonism; Zech-Boesch Syndrome

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c9orf3 has been classified as Green List (High Evidence).

19 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: C9orf3 was added gene: C9orf3 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C9orf3 were set to PMID: 35306330 Phenotypes for gene: C9orf3 were set to Dystonia-31; Childhood/Adolescence onset generalised dystonia; Dystonia parkinsonism; Zech-Boesch Syndrome; OMIM 619565