Mosaic skin disorders - deep sequencing
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
N546K, K656E. Mosaicism 23%+ in affected tissues (absent from blood)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
Encephalocraniocutaneous Lipomatosis (613001)
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: FGFR1; 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
-
- Epidermal naevi
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal dysplasia
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Differences in sex development
- Monogenic short stature
- Common craniosynostosis syndromes
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- DDG2P
- Pituitary hormone deficiency
- Limb disorders
- Hypophosphataemia or rickets
- Fetal anomalies
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene FGFR1 were changed from to 26942290
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to FGFR1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FGFR1 was added gene: FGFR1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Epidermal naevi