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Genetic epilepsy syndromes

Gene: FGF12

Green List (high evidence)

FGF12 (fibroblast growth factor 12)
EnsemblGeneIds (GRCh38): ENSG00000114279
EnsemblGeneIds (GRCh37): ENSG00000114279
OMIM: 601513, Gene2Phenotype
FGF12 is in 5 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)

AD EIEE47 - onset of intractable seizures in the first few days or weeks of life. Siekierska et al, 2016 - 2 sibs with EIEE deaths at 7 and 3.5 years. Al-Mehmadi et al - 3 unrelated patients with EIEE47. Patients had diff disease course although all had seizures. Guella et al, 2016 - 15 year old girl with EIEE47 - developed tonic seizures on second day of life. In all the papers above only variant detected is R52H - de novo in each case. In vitro functional studies done by Siekierska et al 2016 - supports pathogenicity.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 617166

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Created: 14 Nov 2018, 10:52 a.m.
Comment on mode of inheritance: changed MOI from external clinical review and publications
Created: 14 Nov 2018, 10:47 a.m.
Comment on publications: Added publications that support the association with the phenotype and cases, suggested by external reviewer and recent publication Takeguchi R et al., (2018) PMID:29699863 describes two further unrelated cases, 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). Both patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12, which was identified with whole-exome sequencing. The mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy.
Created: 14 Nov 2018, 10:43 a.m.
Comment on phenotypes: added phenotype from external review and checked with OMIM and orphanet
Created: 13 Nov 2018, 5:18 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated patients reported, EE phenotype.
Created: 13 Aug 2018, 12:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 47, MIM#617166

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
OMIM
601513
Clinvar variants
Variants in FGF12
Penetrance
None
Publications
Panels with this gene

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 FGF12.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FGF12.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Multiple unrelated patients re

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fgf12 has been classified as Green List (High Evidence).

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fgf12 has been classified as Green List (High Evidence).

14 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FGF12 were set to

13 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47, 617166

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to FGF12. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FGF12 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FGF12 was created by Sarah Leigh