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Genetic epilepsy syndromes

Gene: FGFR3

Amber List (moderate evidence)

FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 22 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Paper by Okazaki et al 2017. States HCH patients with the N540K variant are reported to have medial temporal lobe dysgenesis and epilepsy. Not mentioned on OMIM. Other papers 2017/2018 suggesting link with HCH and epilepsy. Not enough evidence to add to panel and due to the presence of short stature, they will hopefully have been diagnosed on the HCH/ACH panel.
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
Achondroplasia, 100800; Bladder cancer, somatic, 109800; CATSHL syndrome, 610474; Cervical cancer, somatic, 603956; Colorectal cancer, somatic, 114500; Crouzon syndrome with acanthosis nigricans, 612247; Hypochondroplasia, 146000; LADD syndrome, 149730; Muenke syndrome, 602849; Nevus, epidermal, somatic, 162900; SADDAN, 616482; Spermatocytic seminoma, somatic, 273300; Thanatophoric dysplasia, type I, 187600; Thanatophoric dysplasia, type II, 187601;

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber because the Craniosynostosis panel is more appropriate for testing. Demoted from Green to Amber.
Created: 15 Aug 2019, 10:06 a.m. | Last Modified: 15 Aug 2019, 10:06 a.m.
Panel Version: 1.228
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
PMID:28551036: Okubo et al., 2017 report a 3 year old Japanese boy with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Thee long-term seizure prognosis was favorable. WES revealed a heterozygous variant in FGFR3: c.749C>G, p250A.
Created: 22 Jul 2019, 12:25 p.m. | Last Modified: 22 Jul 2019, 12:25 p.m.
Panel Version: 1.173

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Created: 14 Nov 2018, 12:02 p.m.
Comment on phenotypes: added additional relevant phenotype Muenke syndrome Millichap, J.G., 2012. Epilepsy in Muenke Syndrome. Pediatric Neurology Briefs, 26(12), pp.93–93. DOI: http://doi.org/10.15844/pedneurbriefs-26-12-6 : A review of 789 published cases of Muenke syndrome with neurological complications identified epilepsy in 6 cases, with intracranial anomalies in 5. The intracranial anomalies were agenesis of the corpus callosum, hemimegalencephaly, and porencephaly. In the review of 58 patients with Muenke syndrome in the Washington, DC cohort, 7 (12%) had epilepsy and 4 survived neonatal apnea. Patients with Muenke syndrome should be monitored for apnea and seizures.
Created: 14 Nov 2018, noon
Comment on publications: Hypochondroplasia and FGFR3 variants are associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy and was first reported PMID: 24630288 (2014). Subsequent cases PMID: 27485793, PMID:23649205, PMID:12794698. In addition, patients with with Muenke syndrome (MS) also show similarities in early-onset temporal lobe-related seizures PMID:23044018, PMID:12794698, PMID:18000976.
Created: 14 Nov 2018, 11:54 a.m.
Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel.
Created: 14 Nov 2018, 11:25 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

There are reports of seizures in hypochondroplasia (likely related to temporal lobe abnormalities).
Created: 13 Aug 2018, 12:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypochondroplasia, MIM#146000

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypochondroplasia, 146000
  • Focal Epilepsy
  • Muenke syndrome, 602849
  • Epilepsy
OMIM
134934
Clinvar variants
Variants in FGFR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fgfr3 has been classified as Amber List (Moderate Evidence).

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fgfr3 has been classified as Amber List (Moderate Evidence).

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fgfr3 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FGFR3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FGFR3.

22 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6; http://www.ashg.org/genetics/ashg07s/f20570.htm; https://jicna.org/index.php/journal/article/view/100

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: There are reports of seizures

14 Nov 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6; http://www.ashg.org/genetics/ashg07s/f20570.htm

14 Nov 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6

14 Nov 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome, 602849; Epilepsy

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fgfr3 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: fgfr3 has been classified as Green List (High Evidence).

14 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976

14 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy

14 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FGFR3 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: FGFR3 were set to

14 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, 146000; Focal epilepsy

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to FGFR3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FGFR3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FGFR3 was created by Sarah Leigh