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Intellectual disability

Gene: FGFR3

Red List (low evidence)
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Causation is clear for the syndromes listed. Although ID is a reported feature of some of these conditions, they would be expected to present in a syndromic manner with (mainly) significant skeletal findings initially. This, along with the fact that there are a specific missense variants associated with each condition, means that the utility of calling all variants in this gene in a cohort that includes non-syndromic ID is unlikely to be of high diagnostic benefit.
Created: 21 Dec 2017, 10:28 a.m.
Comment on list classification: Causation is clear for the syndromes listed. Although ID is a reported feature of some of these conditions, they would be expected to present in a syndromic manner with (mainly) significant skeletal findings initially. This, along with the fact that there are a specific missense variants associated with each condition, means that the utility of calling all variants in this gene in a cohort that includes non-syndromic ID is unlikely to be of high diagnostic benefit.
Created: 21 Dec 2017, 10:28 a.m.
Created: 21 Dec 2017, 10:28 a.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.69

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Developmental delay and/or mental retardation can be a feature of patients with CATSHL syndrome, Hypochondroplasia, Muenke syndrome and SADDAN 616482. Survivors of Thanatophoric dysplasia, type I 187600 have Profound mental retardation and hypotonia. Confirmed DD gene for Muenke syndrome, Camptodactyly Tall Stature and Hearing Loss Syndrome, Hypochondroplasia, Thanatophoric dysplasia, type I. More than 3 cases reported, and different variants described.
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600

Publications

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

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

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME (LADDS)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Activating; Uncertain
Created: 27 Jul 2017, 5:50 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; Activating; Uncertain. 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, 12:27 p.m.

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

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 5:46 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:28 a.m.

Panel version: 0.306

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to FGFR3.

12 Mar 2018, Gel status: 1

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: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene FGFR3 was set to ['17033969', '24864036', '3591840', '7773297', '8858131', '7647778', '7670477', '10360392', '10360393', '9450868', '8841188']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen