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  2. Lysosomal storage disorder
  3. FUCA1
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Lysosomal storage disorder

Gene: FUCA1

Green List (high evidence)
FUCA1 (alpha-L-fucosidase 1)
EnsemblGeneIds (GRCh38): ENSG00000179163
EnsemblGeneIds (GRCh37): ENSG00000179163
OMIM: 612280, Gene2Phenotype
FUCA1 is in 11 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fucosidosis 230000

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Fucosidosis OMIM:230000
  • fucosidosis MONDO:0009254
OMIM
612280
Clinvar variants
Variants in FUCA1
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FUCA1 was added gene: FUCA1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis 230000