Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: LRP4

Green List (high evidence)

LRP4 (LDL receptor related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with green rating, mostly limb.
Created: 9 Sep 2018, 5:40 p.m.

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780
  • CLSS
  • Cenani syndactyly
  • Cenani-Lenz syndactyly
  • Syndactyly type 7
  • Polydactyly
OMIM
604270
Clinvar variants
Variants in LRP4
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Louise Daugherty: added gene due to expert revie

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7

5 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

LRP4 was added to Limb disorders panel. Sources: Other

5 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

LRP4 was created by Louise Daugherty