Early-onset Dementia
Gene: HTRA1EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dementia or cognitive decline have been reported in >3 cases with recessive and dominant disease.
Sources: Expert listCreated: 6 Feb 2020, 4:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CARASIL syndrome MIM#600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- CARASIL syndrome MIM#600142
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779
- OMIM
- 602194
- Clinvar variants
- Variants in HTRA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: htra1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: htra1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HTRA1 was added gene: HTRA1 was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HTRA1 were set to 29895533; 26063658; 19387015 Phenotypes for gene: HTRA1 were set to CARASIL syndrome MIM#600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779 Review for gene: HTRA1 was set to GREEN