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Molecular autopsy

Gene: RFT1

Green List (high evidence)
RFT1 (RFT1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000163933
EnsemblGeneIds (GRCh37): ENSG00000163933
OMIM: 611908, Gene2Phenotype
RFT1 is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type In 612015
  • Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
OMIM
611908
Clinvar variants
Variants in RFT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RFT1 was added gene: RFT1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 27604308 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)