Early onset or syndromic epilepsy
Gene: VLDLR
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
This gene appears to be associated with cerebellar ataxia and seizures had been identified in a proportion of cases, PMID 16174313Created: 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
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; 27251579Created: 11 Dec 2018, 2:31 p.m.
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
Source Wessex and West Midlands GLH was added to VLDLR.
Source NHS GMS was added to VLDLR.
Zornitza Stark: Seizures are present in some i
Gene: vldlr has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: VLDLR.
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Gene: vldlr has been classified as Amber List (Moderate Evidence).
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122
Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313
Publications for gene: VLDLR were set to 16174313
Gene: vldlr has been classified as Red List (Low Evidence).
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Mode of inheritance for gene: VLDLR was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to VLDLR. Panel: Genetic Epilepsy Syndromes
VLDLR was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
VLDLR was created by Sarah Leigh