Inherited white matter disorders

Gene: HTRA1

Red List (low evidence)

HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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