TTC19

tetratricopeptide repeat domain 19
OMIM: 613814, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green TTC19 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Green TTC19 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Green TTC19 in Mitochondrial disorder with complex III deficiency Level 2: Mitochondrial Version 2.7 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Green TTC19 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157
Green TTC19 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 2, 615157 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex III Deficiency
Green TTC19 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 TTC19 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Red TTC19 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY
Green TTC19 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY 124000
Green TTC19 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY
Green TTC19 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 2, 615157 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex III Deficiency
Red TTC19 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157
Red TTC19 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157
Amber TTC19 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 mitochondrial complex III deficiency nuclear type 2, MONDO:0014063 Tags Q3_25_promote_green Q3_25_NHS_review
Red TTC19 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH