Mosaic skin disorders - deep sequencing
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
R248C, S249C, G372C.Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermal naevi (162900); Syringocystadenoma papilliferum
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Rebecca Foulger (Genomics England curator)
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: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Syringocystadenoma papilliferum
- Epidermal naevi
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Insulin resistance (including lipodystrophy)
- Clefting
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Thanatophoric dysplasia
- Hydrocephalus
- Monogenic diabetes
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene FGFR3 were changed from to 22499344; 16841094
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to FGFR3.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FGFR3 was added gene: FGFR3 was added to Mosaic skin disorders - deep sequencing. 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 Syringocystadenoma papilliferum; Epidermal naevi