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Hereditary Neuropathy - complex

Gene: IFRD1

Red List (low evidence)
IFRD1 (interferon related developmental regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000006652
EnsemblGeneIds (GRCh37): ENSG00000006652
OMIM: 603502, Gene2Phenotype
IFRD1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The reported variant (p.Ile172Val) in two families is too common for a dominant disease in gnomAD. The African AF is 0.003325 (global AC is 143/282,834 alleles). There is no OMIM phenotype associated with this gene.
Created: 23 Mar 2020, 4:32 a.m. | Last Modified: 23 Mar 2020, 4:32 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 23 Mar 2020, 4:32 a.m.
Last Modified: 23 Mar 2020, 4:32 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458)
  • HMSN
Tags
refuted
OMIM
603502
Clinvar variants
Variants in IFRD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag refuted tag was added to gene: IFRD1.

14 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ifrd1 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IFRD1 was added gene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFRD1 were set to 29362493; 19409521 Phenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN