Adult onset neurodegenerative disorder
Gene: IBA57

IBA57 (IBA57 homolog, iron-sulfur cluster assembly)
EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 15 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Spastic paraplegia-74 is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade - red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.

Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 74, autosomal recessive, 616451

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Congenital or early onset
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.

Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 74, autosomal recessive, 616451

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 23 Apr 2019, 5:31 p.m.

Panel version: 1.10

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.

Panel Version: 1.106

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.

Panel Version: 1.101

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Created: 23 Apr 2019, 3:05 p.m.

Panel version: 1.106

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

Recent review by CS (18/12/18), awaiting clinical review.
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 74, autosomal recessive, 616451

Created: 23 Apr 2019, 2:42 p.m.

Panel version: 1.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Wessex and West Midlands GLH
Yorkshire and North East GLH
London North GLH
NHS GMS
South West GLH

Phenotypes

?Spastic paraplegia 74, autosomal recessive, OMIM:616451

OMIM

615316

Clinvar variants

Variants in IBA57

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451

20 Sep 2019, Gel status: 1