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Early-onset Parkinson disease

Gene: FRRS1L

Green List (high evidence)
FRRS1L (ferric chelate reductase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000260230
EnsemblGeneIds (GRCh37): ENSG00000260230
OMIM: 604574, Gene2Phenotype
FRRS1L is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity as part of DEE.
Created: 26 Jul 2022, 3:06 a.m. | Last Modified: 26 Jul 2022, 3:06 a.m.
Panel Version: 0.218

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 37, MIM# 616981

Created: 26 Jul 2022, 3:06 a.m.
Last Modified: 26 Jul 2022, 3:06 a.m.
Panel version: 0.218

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 22 Jul 2022, 6:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic dyskinetic encephalopathy; Seizures; Chorea; Parkinsonism; Developmental delay; OMIM 616981

Publications

Created: 22 Jul 2022, 6:39 a.m.

Panel version: 0.215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 37, MIM# 616981
  • Seizures
  • Chorea
  • Parkinsonism
  • Developmental delay
OMIM
604574
Clinvar variants
Variants in FRRS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frrs1l has been classified as Green List (High Evidence).

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FRRS1L were changed from Developmental and epileptic dyskinetic encephalopathy; Seizures; Chorea; Parkinsonism; Developmental delay; OMIM 616981 to Developmental and epileptic encephalopathy 37, MIM# 616981; Seizures; Chorea; Parkinsonism; Developmental delay

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frrs1l has been classified as Green List (High Evidence).

22 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: FRRS1L was added gene: FRRS1L was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to PMID: 29086067 Phenotypes for gene: FRRS1L were set to Developmental and epileptic dyskinetic encephalopathy; Seizures; Chorea; Parkinsonism; Developmental delay; OMIM 616981 Review for gene: FRRS1L was set to GREEN