FUCA1

alpha-L-fucosidase 1
OMIM: 612280
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis OMIM:230000, fucosidosis MONDO:0009254
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FUCOSIDOSIS 230000
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, 230000, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, 230000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, 230000, FUCOSIDOSIS (FUCA1D), intellectual disability
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis OMIM:230000, fucosidosis MONDO:0009254
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis 230000
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, General Leukodystrophy & Mitochondrial Leukoencephalopathy