GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: RFT1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type In 612015

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Congenital disorder of glycosylation, type In 612015

OMIM

611908

Clinvar variants

Variants in RFT1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: RFT1 was added gene: RFT1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: RFT1