1. Panels
  2. Prepair 1000+
  3. VLDLR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: VLDLR

Green List (high evidence)
VLDLR (very low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 15 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease association.

Characterised by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia
Created: 31 Jul 2024, 6:48 a.m. | Last Modified: 31 Jul 2024, 6:48 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1

Publications

Created: 31 Jul 2024, 6:48 a.m.
Last Modified: 31 Jul 2024, 6:48 a.m.
Panel version: 1.65

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: vldlr has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) to Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: VLDLR were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) for gene: VLDLR

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VLDLR was added gene: VLDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)