FH

fumarate hydratase
OMIM: 136850
PanelMode of inheritanceDetails
9 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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FUMARASE DEFICIENCY 606812
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FUMARASE DEFICIENCY
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
Fumarase deficiency, 606812, Fumarase deficiency (Disorders of the citric acid cycle)
R-numbers: R223
Signed-off version 1.4
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency, 606812Leiomyomatosis and renal cell cancer, 150800, FUMARASE DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency, 606812
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency 606812