Inherited white matter disorders
Gene: HTRA1
HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
1 review
Zornitza Stark (Australian Genomics)
11 unrelated individuals described in the literature with heterozygous variants in this gene; later-onset leukoencephalopathy.Created: 24 Jul 2018, 2:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM#616779
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- UKGTN
- Phenotypes
-
- CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
- OMIM
- 602194
- Clinvar variants
- Variants in HTRA1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Retinal disorders
- Inherited white matter disorders
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Cerebral vascular malformations
- Adult onset leukodystrophy
History Filter Activity
6 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
19 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HTRA1 was created by ellenmcdonagh
19 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HTRA1 was added to Inherited white matter disorderspanel. Sources: UKGTN