Genomics England

TTC19

tetratricopeptide repeat domain 19

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY 124000
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial Diseases, Isolated complex III deficiency, Mitochondrial Respiratory Chain Complex III Deficiency, Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial complex III deficiency, nuclear type 2, 615157
Green in Mitochondrial disorder with complex III deficiency R-numbers: R355 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 2, 615157, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex III Deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157