Cerebral Palsy
Gene: HSPD1
HSPD1 (heat shock protein family D (Hsp60) member 1)
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. HLD4 has been reported to show rapidly progressive prominent spasticity and developmental regression.
Sources: LiteratureCreated: 14 Jun 2024, 5:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, MIM#612233
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 4, MIM#612233
- OMIM
- 118190
- Clinvar variants
- Variants in HSPD1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
14 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hspd1 has been classified as Red List (Low Evidence).
14 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hspd1 has been classified as Red List (Low Evidence).
14 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: HSPD1 was added gene: HSPD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPD1 were set to PMID: 38693247 Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM#612233 Review for gene: HSPD1 was set to RED