Genomics England

HTRA2

HtrA serine peptidase 2

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII, 617248
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type VIII, 617248, early onset neurological syndrome, neutropenia