Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: VLDLR

Green List (high evidence)

VLDLR (very low density lipoprotein receptor)
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

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