FH

fumarate hydratase
OMIM: 136850
PanelMode of inheritanceDetails
10 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Leiomyomatosis and Renal Cell Cancer
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FUMARASE DEFICIENCY 606812
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency, OMIM:606812
R-numbers: R365
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R223
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCC/PGL, HLRCC
R-numbers: R224
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Uterine leiomyosarcoma (less common), Cutaneous leiomyosarcoma (less common), Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
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
Fumarase deficiency, OMIM:606812
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
Fumarase deficiency, OMIM:606812, Disorders of the citric acid cycle
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency, OMIM:606812
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency, OMIM:606812