Deafness_IsolatedAndComplex
Gene: RFT1EnsemblGeneIds (GRCh38): ENSG00000163933
EnsemblGeneIds (GRCh37): ENSG00000163933
OMIM: 611908, Gene2Phenotype
RFT1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.
Sources: Expert ReviewCreated: 20 Dec 2020, 10:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Congenital disorder of glycosylation, type In, MIM# 612015
- RFT1-CDG, MONDO:0012783
- OMIM
- 611908
- Clinvar variants
- Variants in RFT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rft1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rft1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RFT1 was added gene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783 Review for gene: RFT1 was set to GREEN