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  2. Hereditary Spastic Paraplegia - paediatric
  3. IBA57
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Hereditary Spastic Paraplegia - paediatric

Gene: IBA57

Green List (high evidence)
IBA57 (IBA57 homolog, iron-sulfur cluster assembly)
EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three families with spastic paraparesis as a feature of the condition.
Sources: Expert list
Created: 19 Apr 2020, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 74, autosomal recessive MIM#616451

Publications

Created: 19 Apr 2020, 10:31 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 74, autosomal recessive MIM#616451
OMIM
615316
Clinvar variants
Variants in IBA57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: iba57 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: iba57 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IBA57 was added gene: IBA57 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 25609768; 30258207 Phenotypes for gene: IBA57 were set to Spastic paraplegia 74, autosomal recessive MIM#616451 Review for gene: IBA57 was set to GREEN