Familial cerebral small vessel disease
Gene: HTRA1Comment on mode of inheritance: As both CARASIL syndrome 600142 (AR) and Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 (AD) are relevant to this panel, "Both" is the correct moiCreated: 6 Feb 2018, 10:45 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 4 Jul 2016, 9:56 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 9:56 a.m.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by homozygous mutations in the HTRA1 gene. It was previously only described in consanguineous families in East Asia and one family in Europe.
Loss-of-function mutations in HTRA1 have been reported to cause CARASIL.
A heterozygous mutation in HTRA1 was recently shown to segregate with disease in a European family with early-onset cerebral small vessel disease. Heterozygous mutations were also found in 10 other unrelated cases in the same population.Created: 22 Jun 2016, 3:59 p.m.
Phenotypes
Cerebral small vessel disease; strokes, dementia; cognitive impairment; psychiatric disturbance; alopecia; degenerative disc disease
Publications
Mode of inheritance for HTRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for HTRA1 were set to Cerebral small vessel disease; strokes, dementia; cognitive impairment; psychiatric disturbance; alopecia; degenerative disc disease; CARASIL syndrome 600142 AR; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
HTRA1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Publications for HTRA1 were set to 21215656; 19299137; 11889251; 26138950; 21115960; 26063658
HTRA1 was created by rheatan
HTRA1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature