Mitochondrial disorders
Gene: HSPD1EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Monallelic = Spastic paraplegia 13, autosomal dominant, biallelic = Leukodystrophy, hypomyelinating, 4.Created: 2 Mar 2016, 12:36 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a G2P DD and IF gene for SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13 and LEUKODYSTROPHY HYPOMYELINATING TYPE 4.Created: 2 Mar 2016, 12:35 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR)
- Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
- OMIM
- 118190
- Clinvar variants
- Variants in HSPD1
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to HSPD1. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HSPD1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen