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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 11 variants reported.
Created: 17 Jan 2017, 3:16 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FUCA1. Source London North GLH was added to FUCA1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FUCA1 was added gene: FUCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal