TTC19

tetratricopeptide repeat domain 19
OMIM: 613814
PanelMode of inheritanceDetails
8 panels
R-numbers: R58
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX III DEFICIENCY 124000
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX III DEFICIENCY
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 5.0
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
R-numbers: R355
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157