This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FUCA1
FUCA1 (alpha-L-fucosidase 1)
EnsemblGeneIds (GRCh38): ENSG00000179163
EnsemblGeneIds (GRCh37): ENSG00000179163
OMIM: 612280, Gene2Phenotype
FUCA1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000179163
EnsemblGeneIds (GRCh37): ENSG00000179163
OMIM: 612280, Gene2Phenotype
FUCA1 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - Q351* in 20% of families.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis 230000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Fucosidosis 230000
- OMIM
- 612280
- Clinvar variants
- Variants in FUCA1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FUCA1 was added gene: FUCA1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis 230000