Fetal anomalies
Gene: FUCA1

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.

Panel Version: 0.311

DDG2P rating in original PAGE list: Confirmed for FUCOSIDOSIS
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

FUCOSIDOSIS

OMIM

612280

Clinvar variants

Variants in FUCA1

Penetrance

None

Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to FUCA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FUCA1 was added gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS

Fetal anomalies Gene: FUCA1