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  3. FRRS1L
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Cerebral Palsy

Gene: FRRS1L

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

3 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional four unrelated individuals with a different recurrent homozygous frameshift variant (p.Ile146Asnfs*10) reported in a study from Belgium (PMID:39213953). Evidence for multiple founder mutations in FRRS1L (PMID: 32928027). Some patients without apparent regression and with a hyperkinetic movement disorder have been reported.
Created: 2 Sep 2024, 5:57 a.m. | Last Modified: 2 Sep 2024, 5:57 a.m.
Panel Version: 1.367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy MIM#616981

Publications

Created: 2 Sep 2024, 5:57 a.m.
Last Modified: 2 Sep 2024, 5:57 a.m.
Panel version: 1.367

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Recurrent homozygous variant is suspicious of founder effect. The cohort is so large that it is difficult to know whether the families were independent.
Created: 30 May 2023, 6:37 a.m. | Last Modified: 30 May 2023, 6:37 a.m.
Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy MIM#616981

Created: 30 May 2023, 6:37 a.m.
Last Modified: 30 May 2023, 6:37 a.m.
Panel version: 1.39

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Three independent patients in a large CP cohort study with the same recurrent homozygous mutation (NM_014334:c.735_737del,p.245_246del).
Another cohort study of multiple patients with biallelic FRRS1L mutations and epileptic-dyskinetic encephalopathy described on patient (individual 4_II-1) with non-progressive movement disorder in addition to epilepsy.
Sources: Literature
Created: 29 May 2023, 6:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy MIM#616981

Publications

Created: 29 May 2023, 6:35 a.m.

Panel version: 1.36

Details

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

History Filter Activity

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frrs1l has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frrs1l has been classified as Amber List (Moderate Evidence).

29 May 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: FRRS1L was added gene: FRRS1L was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to 33528536; 27236917 Phenotypes for gene: FRRS1L were set to Developmental and epileptic encephalopathy MIM#616981 Review for gene: FRRS1L was set to GREEN