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  3. FUCA1
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Childhood onset dystonia, chorea or related movement 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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 19 May 2021, 12:19 p.m. | Last Modified: 19 May 2021, 12:19 p.m.
Panel Version: 1.118
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Multiple variants reported, with dystonia present in 9/75 cases of fucosidosis OMIM:230000 (PMID: 31064022).
Created: 19 May 2021, 12:19 p.m. | Last Modified: 19 May 2021, 12:19 p.m.
Panel Version: 1.117
Created: 19 May 2021, 12:19 p.m.
Last Modified: 19 May 2021, 12:19 p.m.
Panel version: 1.217

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022).
Created: 5 Sep 2020, 8:07 a.m. | Last Modified: 5 Sep 2020, 8:07 a.m.
Panel Version: 1.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fucosidosis, MIM#230000

Publications

Created: 5 Sep 2020, 8:07 a.m.
Last Modified: 5 Sep 2020, 8:07 a.m.
Panel version: 1.49

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: FUCA1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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

19 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FUCA1.

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fuca1 has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 May 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FUCA1 were set to

19 May 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FUCA1 was added gene: FUCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: FUCA1 was set to