Leukodystrophy - adult onset
Gene: HTRA1

HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both conditions are adult onset.
Created: 7 May 2020, 8:33 a.m. | Last Modified: 7 May 2020, 8:33 a.m.

Panel Version: 0.54

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

Created: 7 May 2020, 8:33 a.m.
Last Modified: 7 May 2020, 8:33 a.m.
Panel version: 0.54

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
CARASIL syndrome, 600142

OMIM

602194

Clinvar variants

Variants in HTRA1

Penetrance

None

Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: htra1 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HTRA1 was added gene: HTRA1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142

Leukodystrophy - adult onset Gene: HTRA1