Polydactyly
Gene: LRP4EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Generally causes syndactyly rather than polydactylyCreated: 21 Jul 2020, 1:23 p.m. | Last Modified: 21 Jul 2020, 1:23 p.m.
Panel Version: 0.103
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cenani-Lenz syndactyly syndrome, MIM# 212780; Sclerosteosis 2, MIM# 614305
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cenani-Lenz syndactyly syndrome, MIM# 212780
- Sclerosteosis 2, MIM# 614305
- OMIM
- 604270
- Clinvar variants
- Variants in LRP4
- Penetrance
- None
- Panels with this gene
-
- Hand and foot malformations
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp4 has been classified as Red List (Low Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LRP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LRP4 were changed from to Cenani-Lenz syndactyly syndrome, MIM# 212780; Sclerosteosis 2, MIM# 614305
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRP4 was added gene: LRP4 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP4 was set to Unknown