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Fetal anomalies

Gene: FRRS1L

Amber List (moderate evidence)

FRRS1L (ferric chelate reductase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000260230
EnsemblGeneIds (GRCh37): ENSG00000260230
OMIM: 604574, Gene2Phenotype
FRRS1L is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Epileptic encephalopathy with continuous spike-and-wave during sleep
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic encephalopathy with continuous spike-and-wave during sleep
OMIM
604574
Clinvar variants
Variants in FRRS1L
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: FRRS1L was added gene: FRRS1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep