Insulin resistance (including lipodystrophy)Gene: FGFR3
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 resistance
Created: 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.
Promoted to version 1 12/08/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for FGFR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for FGFR3 were set to Hypochondroplasia, 146000; Crouzon syndrome with acanthosis nigricans, 612247;
FGFR3 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
FGFR3 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen