Ataxia and cerebellar anomalies - narrow panel
Gene: VLDLR
VLDLR (very low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 12 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
- Cerebellar Hypoplasia
- OMIM
- 192977
- Clinvar variants
- Variants in VLDLR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
19 Dec 2018, Gel status: 4
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Cerebellar Hypoplasia for gene: VLDLR Publications for gene VLDLR were changed from to 18364738; 16080122
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: VLDLR was added gene: VLDLR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal