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  3. IFRD1
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Hereditary Spastic Paraplegia - paediatric

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)

A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Created: 19 Apr 2020, 10:42 a.m. | Last Modified: 19 Apr 2020, 10:42 a.m.
Panel Version: 0.73

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary spastic paraplegia; peripheral neuropathy; ataxia

Publications

Created: 19 Apr 2020, 10:42 a.m.
Last Modified: 19 Apr 2020, 10:42 a.m.
Panel version: 0.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
Tags
refuted
OMIM
603502
Clinvar variants
Variants in IFRD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Mar 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag refuted tag was added to gene: IFRD1.

31 Dec 2019, 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 Spastic Paraplegia - paediatric_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 Phenotypes for gene: IFRD1 were set to autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia