Early onset or syndromic epilepsy
Gene: VLDLR

VLDLR (very low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 12 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

This gene appears to be associated with cerebellar ataxia and seizures had been identified in a proportion of cases, PMID 16174313
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least two variants reported in two unrelated cases in which seizures are a phenotypic feature.
PMID: 16174313 reports seizures in 5/19 cases with autosomal recessivecerebellar hypoplasiain the Hutterite population, but does not include any genetic evidence. PMID: 18326629 reports VLDLR a c.769C>T variant in Family A, where seizures are a rare ocurrance and also a deletion including VLDLR and LOC401491 in the family described in PMID: 16080122.
Created: 11 Dec 2018, 4:36 p.m.

Comment on publications: Seizures not evident in cases reported in PMID: 18043714; 27000652; 27108886; 27251579
Created: 11 Dec 2018, 2:31 p.m.

Created: 11 Dec 2018, 2:31 p.m.

Panel version: 0.1571

Zornitza Stark (Australian Genomics)

I don't know

Seizures are present in some individuals with this neurodevelopmental disorder.
Created: 22 Aug 2018, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Aug 2018, 9 a.m.

Panel version: 0.335

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050

Tags

watchlist

OMIM

192977

Clinvar variants

Variants in VLDLR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to VLDLR.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to VLDLR.

11 Dec 2018, Gel status: 2