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Deafness_IsolatedAndComplex

Gene: RFT1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.
Sources: Expert Review
Created: 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

20 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rft1 has been classified as Green List (High Evidence).

20 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rft1 has been classified as Green List (High Evidence).

20 Dec 2020, Gel status: 1

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