Possible mitochondrial disorder - nuclear genes
Gene: HSPD1EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant 605280
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, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR)
- Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
- OMIM
- 118190
- Clinvar variants
- Variants in HSPD1
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- 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
- 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)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HSPD1 was added gene: HSPD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233