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Genetic epilepsy syndromes

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR fucosidosis - lysosomal storage disease - clinical features include angiokeratoma, progressive psychomotor retardation, neurological signs, coarse facial features and dysostosis multiplex. Willems et al, 1999 - spectrum of mutations reported - no specific phenotypic information. In the Willems et al paper, 1991 - they review 77 patients - 38% had seizures. Saleh-Gohari et al, 2018 - girl born to consang parents - seizures during the neonatal period - hom fs variant. Panmontha et al, 2016 - Thai boy non-consang parents - two diff novel variants - 1 fs and 1 whole exon del.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fucosidosis, 230000

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Created: 29 Nov 2018, 11:28 a.m.
Comment on publications: added publication to support gene-disease association
Created: 29 Nov 2018, 11:26 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 28 Nov 2018, 5:30 p.m.
Comment on mode of inheritance: changed MOI from external clinical review and publications
Created: 28 Nov 2018, 5:29 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of this multi-system metabolic disorder.
Created: 14 Aug 2018, 12:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fucosidosis, MIM#230000

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

Details

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FUCA1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FUCA1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of this mult

30 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fuca1 has been classified as Green List (High Evidence).

29 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fuca1 has been classified as Green List (High Evidence).

29 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FUCA1 were set to

28 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

28 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to FUCA1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FUCA1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FUCA1 was created by Sarah Leigh