Insulin resistance (including lipodystrophy)
Gene: FGFR3
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
2 reviews
Robert Semple (University of Cambridge)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes not relevant for this condition, both Hypochondroplasia, 146000 and Crouzon syndrome with acanthosis nigricans, 612247 may present with acanthosis nigricans, but neither these or the other phenotypes are relevant to insulin resistanceCreated: 11 Aug 2016, 11:15 a.m.
Comment on phenotypes: Variants associated with Achondroplasia, 100800; Thanatophoric dysplasia, type I, 187600; Muenke syndrome, 602849; Bladder cancer, somatic, 109800; Colorectal cancer, somatic, 114500; Cervical cancer, somatic, 603956; LADD syndrome, 149730; CATSHL syndrome, 610474; Nevus, epidermal, somatic, 162900; Thanatophoric dysplasia, type II, 187601; Spermatocytic seminoma, somatic, 273300;Created: 11 Aug 2016, 11:12 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hypochondroplasia, 146000
- Crouzon syndrome with acanthosis nigricans, 612247
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- 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
12 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
11 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
11 Aug 2016, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
11 Aug 2016, Gel status: 2
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FGFR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Aug 2016, Gel status: 2
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FGFR3 were set to Hypochondroplasia, 146000; Crouzon syndrome with acanthosis nigricans, 612247;
24 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen