Limb disordersGene: LRP4
Genomics England clinical team notes - Agree with green rating, mostly limb.
Created: 9 Sep 2018, 5:40 p.m.
Comment on list classification: changed from Red to Green - Numerous variants reported in Cenani-Lenz syndactyly syndrome
Created: 5 Apr 2018, 2:02 p.m.
From Orphanet, characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance. A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported. The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly.
Created: 5 Apr 2018, 1:50 p.m.
added phenotype synonyms
Created: 5 Apr 2018, 1:48 p.m.
added gene due to expert review comment on FMN1
Created: 5 Apr 2018, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7
Louise Daugherty: added gene due to expert revie
Victorian Clinical Genetics Services was added to LRP4. Panel: Limb disorders Phenotypes for gene LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780, CLSS, Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7, Polydactyly
Phenotypes for LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7
This gene has been classified as Green List (High Evidence).
LRP4 was added to Limb disorders panel. Sources: Other
LRP4 was created by Louise Daugherty