Hereditary spastic paraplegia - adult onset

Gene: HSPD1

Amber List (moderate evidence)

HSPD1 (heat shock protein family D (Hsp60) member 1)
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Adult onset. One clear family but also not fully penetrant. Another individual with two unaffected brothers with mutation.
Created: 10 May 2019, 11:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

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

I don't know

Pseudogene confounds variant calling. Publications- 1) 2 affected memebers from same family SPG, 2) 1 pt identified in a screen of 23 unrelated danish, affected pt's 2 brothers had the same mutation but no manifestations of SPG, FHX suggests mother may have been affected ?reduce penetrance. pt 3)linkage studies, followed by candidate gene analysis, of a large Israeli Bedouin family with autosomal recessive hypomyelinating leukodystrophy HLD4.
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280; Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233
  • Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280
OMIM
118190
Clinvar variants
Variants in HSPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HSPD1 were set to

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HSPD1.

25 Apr 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to HSPD1. Mode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HSPD1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HSPD1 was added gene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: HSPD1 was set to