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Early onset or syndromic epilepsy
Gene: FRRS1L

FRRS1L (ferric chelate reductase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000260230
EnsemblGeneIds (GRCh37): ENSG00000260230
OMIM: 604574, Gene2Phenotype
FRRS1L is in 4 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Early infantile epileptic encepalopathy. 8 affecteds from 4 families - all had hom mutations in this gene, 3 predicted to produce a truncated protein product. Another large consanguineous family also had a hom truncating variant which tracked with disease in 6 affecteds. Another study by Brechet et al identified 3 more unrealted families with hom variants. 3 unrelated families all have the same hom change (all Saudi families ?founder mutation).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 616981

Publications

27236917

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Created: 29 Nov 2018, 11:49 a.m.

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 29 Nov 2018, 11:48 a.m.

Comment on mode of inheritance: Added MOI from external clinical review and publications
Created: 29 Nov 2018, 11:33 a.m.

Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 29 Nov 2018, 11:32 a.m.

Created: 29 Nov 2018, 11:32 a.m.

Panel version: 0.1230

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated families reported with this EE phenotype.
Created: 14 Aug 2018, 12:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 37, MIM#616981

Publications

27236917, 27239025

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Aug 2018, 12:11 a.m.

Panel version: 0.327

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Epileptic encephalopathy, early infantile 37, 616981

OMIM

604574

Clinvar variants

Variants in FRRS1L

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FRRS1L.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FRRS1L.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Multiple unrelated families re

30 Nov 2018, Gel status: 3