Limb disorders
Gene: LRP4EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 9 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:29 p.m. | Last Modified: 3 Aug 2022, 3:29 p.m.
Panel Version: 2.79
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 9:02 p.m. | Last Modified: 5 Mar 2022, 9:02 p.m.
Panel Version: 2.74
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 syndromeCreated: 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 synonymsCreated: 5 Apr 2018, 1:48 p.m.
added gene due to expert review comment on FMN1Created: 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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Other
- Phenotypes
-
- Cenani-Lenz syndactyly syndrome, OMIM: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
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene LRP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly to Cenani-Lenz syndactyly syndrome, OMIM:212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Louise Daugherty: added gene due to expert revie
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
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
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)LRP4 was added to Limb disorders panel. Sources: Other
Created
Louise Daugherty (Genomics England Curator)LRP4 was created by Louise Daugherty