Multiple monogenic benign skin tumours
Gene: FGFR3
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FGFR3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 29 Jan 2019, 10:38 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Epidermal naevi
- Syringocystadenoma papilliferum
- Tags
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Clefting
- Radial dysplasia
- Multiple monogenic benign skin tumours
- VACTERL-like phenotypes
- Limb disorders
- Intellectual disability
- Monogenic short stature
- Deafness and congenital structural abnormalities
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- Insulin resistance (including lipodystrophy)
- DDG2P
- Choanal atresia
- Arthrogryposis
- Common craniosynostosis syndromes
- Skeletal dysplasia
- Thanatophoric dysplasia
- Monogenic diabetes
- Fetal anomalies
- Hydrocephalus
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FGFR3.
19 Feb 2019, Gel status: 0
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Removed was added to FGFR3. Rating Changed from Green List (high evidence) to No List (delete)
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to FGFR3.
29 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FGFR3 was added gene: FGFR3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum