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Genetic epilepsy syndromes

Gene: FIG4

Red List (low evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 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: Amber.
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)

I don't know

familial epilepsy with polymicrogyria reported as autsomal recessive, AR bilateral temporooccipital polymicrogyria (BTOP), AR CMT type 4J, AR Yunis Varon syndrome and AD ALS11. BTOP is the only one with an associated seizure disorder. Ouled Amar Ben Chiekh et al, 2009 & Baulac et al, 2014 - large consang Moroccan family - 6 individuals had a seizure disorder - all were a homogenous phentoype. Hom missense mutation identified - functional expression stidues indicate that the mutation caused a partial LOF.
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
Amyotrophic lateral sclerosis 11, 612577; Charcot-Marie-Tooth disease, type 4J, 611228; ?Polymicrogyria, bilateral temporooccipital, 612691; Yunis-Varon syndrome, 216340

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on reviewers' comments.
Created: 11 Dec 2018, 1:19 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

One consanguineous family reported with bi-allelic variants in this gene and PMG/seizures.
Created: 13 Aug 2018, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral temporooccipital, MIM#612691

Publications

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FIG4.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FIG4.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: One consanguineous family repo

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fig4 has been classified as Red List (Low Evidence).

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fig4 has been classified as Red List (Low Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to FIG4. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FIG4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FIG4 was created by Sarah Leigh