Cerebral Palsy
Gene: LRP2
LRP2 (LDL receptor related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with compound heterozygous predicted LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. DBS is associated with multiple congenital anomalies.
Sources: LiteratureCreated: 19 Jun 2024, 2:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, MIM#222448
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Donnai-Barrow syndrome, MIM#222448
- OMIM
- 600073
- Clinvar variants
- Variants in LRP2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Congenital diaphragmatic hernia
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp2 has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp2 has been classified as Red List (Low Evidence).
19 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: LRP2 was added gene: LRP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to PMID: 38693247 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448 Review for gene: LRP2 was set to RED