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  2. Congenital disorders of glycosylation
  3. RFT1
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Congenital disorders of glycosylation

Gene: RFT1

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 19 Dec 2016, 11:36 a.m.
Created: 19 Dec 2016, 11:36 a.m.

Panel version: 0.101

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 10:31 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RFT1 were set to 23111317

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

RFT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

RFT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

RFT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene RFT1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

RFT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RFT1 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RFT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory