HTRA1

HtrA serine peptidase 1
OMIM: 602194, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red HTRA1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Moyamoya disease
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Red HTRA1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review Not set
Sources
  • UKGTN
Phenotypes
  • Dementia
Red HTRA1 in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
    Green HTRA1 in Familial cerebral small vessel disease

    Level 3: Arteriopathies
    Level 2: Cardiovascular disorders
    Version 1.17

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • 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
    Green HTRA1 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • CARASIL syndrome, 600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
    Red HTRA1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.179

    review Not set
    Sources
    • UKGTN
    Phenotypes
    • CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
    Green HTRA1 in Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • dementia (disease), MONDO:0001627
    • CARASIL syndrome, OMIM:600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779
    Red HTRA1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Macular Degeneration
    Green HTRA1 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • CARASIL syndrome, 600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779