TTC19

tetratricopeptide repeat domain 19
OMIM: 613814
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX III DEFICIENCY 124000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX III DEFICIENCY
R-numbers: R355
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157