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Mackenzie's Mission_Reproductive Carrier Screening

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
OMIM
604574
Clinvar variants
Variants in FRRS1L
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRRS1L was added gene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive