HTRA1

HtrA serine peptidase 1
OMIM: 602194, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HTRA1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CARASIL syndrome MIM#600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779
Green HTRA1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HTRA1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Macular degeneration, age-related, 7}, 6101493 {Macular degeneration, age-related, neovascular type}, 610149 CARASIL syndrome, 600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Green HTRA1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HTRA1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	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
Green HTRA1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes CARASIL syndrome, MIM# 600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779
Red HTRA1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	Unknown	Sources Genomics England PanelApp Expert Review Red Phenotypes Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 Moyamoya disease
Green HTRA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes CARASIL syndrome
Red HTRA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes CARASIL syndrome, MIM# 600142