Genomics England
GMS Panels
Panels
Genes and Entities

HTRA1

HtrA serine peptidase 1
OMIM: 602194
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
dementia (disease), MONDO:0001627, CARASIL syndrome, OMIM:600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779