Skeletal Dysplasia_Fetal
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 22 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.Created: 28 Oct 2022, 4:50 a.m. | Last Modified: 28 Oct 2022, 4:50 a.m.
Panel Version: 0.154
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteoglophonic dysplasia-MIM#166250
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Osteoglophonic dysplasia-MIM#166250
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FGFR1 were set to
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 Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: FGFR1 was added gene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250 Review for gene: FGFR1 was set to GREEN