Ataxia - paediatric
Gene: VLDLR
VLDLR (very low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).
PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.
PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.
PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers
Summary: 3 independant families + animal studiesCreated: 29 Dec 2021, 2:37 a.m. | Last Modified: 29 Dec 2021, 2:37 a.m.
Panel Version: 0.10360
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
- OMIM
- 192977
- Clinvar variants
- Variants in VLDLR
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Joubert syndrome and other neurological ciliopathies
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: VLDLR was added gene: VLDLR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050