Skeletal dysplasia
Gene: RFT1
Several cases reported. The CDG disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma - dysmorphic features and short stature can be present ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type In 612015
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RFT1; Initial rating suggestion: Green if SDCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 2:02 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type In 612015
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation, type In 612015 for gene: RFT1
Source NHS GMS was added to RFT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RFT1 were set to Congenital disorder of glycosylation, type In 612015
Mode of inheritance for RFT1 was changed to BIALLELIC, autosomal or pseudoautosomal
RFT1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
RFT1 was added to Unexplained skeletal dysplasiapanel. Sources:
RFT1 was created by sleigh