Clefting disorders
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in individuals with monoallelic variants in FGFR3 gene.
PMID:22565872 included 21 individuals with variants in FGFR3 and presenting with Muenke syndrome in this study, of which 16 had structural anomaly of the palate. However, only one patient had cleft lip and palate.
PMID:29150894 reported a father and two children with FGFR3 variant and presenting with hypochondroplasia, of which only the daughter had cleft palate.
2 out of 15 individuals reported in DECIPHER database with monoallelic sequence variants had cleft palate.
Sources: Expert ReviewCreated: 10 Jul 2023, 9:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muenke syndrome, OMIM:602849; Hypochondroplasia, OMIM:146000
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Muenke syndrome, OMIM:602849
- Hypochondroplasia, OMIM:146000
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Choanal atresia
- Arthrogryposis
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR3 was added gene: FGFR3 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 22565872; 29150894; 37010288 Phenotypes for gene: FGFR3 were set to Muenke syndrome, OMIM:602849; Hypochondroplasia, OMIM:146000 Review for gene: FGFR3 was set to AMBER