Mosaic skin disorders
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 22 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermal naevi
Mathew Wallis (Tasmanian Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 26942290
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Epidermal naevi
- Tags
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Polydactyly
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Craniosynostosis
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mosaic skin disorders
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: FGFR1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR1 was added gene: FGFR1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to 26942290 Phenotypes for gene: FGFR1 were set to Epidermal naevi