Dystonia - complex
Gene: HACE1EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two families where 1/5 and 1/3 affected cases has dystonic movements as part of their phenotype, respectively (PMID: 26424145). Members of two out of four families have spasticity/dystonia features, with no further differentiation supplied (PMID: 26437029).
Sources: Expert listCreated: 5 Apr 2020, 11:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
- OMIM
- 610876
- Clinvar variants
- Variants in HACE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hace1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hace1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HACE1 was added gene: HACE1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Review for gene: HACE1 was set to AMBER