1. Panels
  2. Intellectual disability
  3. FGF14
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: FGF14

Amber List (moderate evidence)
FGF14 (fibroblast growth factor 14)
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 9 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Cognitive impairment has been reported in several patients, mostly mild but few cases with moderate deficits have also been described. However, the phenotype is mainly characterised by ataxia which would be the expected CI for diagnostic testing - FGF14 is already Green on Ataxia panels.

The utility of calling variants in this gene in a cohort of ID patients without the ataxic component is unlikely to be of benefit, and therefore the rating has been kept Amber on this panel.
Created: 14 Oct 2020, 4:08 p.m. | Last Modified: 14 Oct 2020, 4:08 p.m.
Panel Version: 3.446
Created: 14 Oct 2020, 4:08 p.m.
Last Modified: 14 Oct 2020, 4:08 p.m.
Panel version: 3.446

Zornitza Stark (Australian Genomics)

Green List (high evidence)

I think this is appropriate for the ID panel, individuals from one family described as not completing primary education, individual from another family is described as having IQ70.
Created: 2 Feb 2020, 9 a.m. | Last Modified: 2 Feb 2020, 9 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 27, MIM# 609307

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

Created: 2 Feb 2020, 9 a.m.
Last Modified: 2 Feb 2020, 9 a.m.
Panel version: 3.0

Ellen McDonagh (Genomics England Curator)

I don't know

This is a green gene on the Hereditary ataxia panel (version 1.79). Mild mental retardation is a phenotype of Spinocerebellar ataxia 27 within the clinical synopsis in OMIM. This gene is not in Gene2Phenotype. Unsure whether this is appropriate to be on the ID panel.
Created: 13 Dec 2017, 9:46 p.m.

Phenotypes
Spinocerebellar ataxia 27 609307

Publications

Created: 13 Dec 2017, 9:46 p.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:48 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; Nijmegen_ID_candidates; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • omim.org

Created: 2 Aug 2017, 5:44 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:25 p.m.
Created: 20 Jul 2017, 12:25 p.m.

Panel version: 1.210

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 27 609307
OMIM
601515
Clinvar variants
Variants in FGF14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fgf14 has been classified as Amber List (Moderate Evidence).

14 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FGF14 were set to 15470364

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to FGF14.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FGF14 was set to ['15470364']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

FGF14 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

FGF14 was created by BRIDGE