Cerebellar hypoplasia
Gene: VLDLREnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 12 panels
1 review
Alice Gardham (Genomics England)
Offered as diagnostic test on UKGTN (CAMRQ1) on cerebral malformation panel. Reasonable amount of literature - mutations identified in at least five families. Confirmed DD gene on G2PCreated: 3 Nov 2016, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
- Cerebellar Hypoplasia
- OMIM
- 192977
- Clinvar variants
- Variants in VLDLR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Alice Gardham (Genomics England)Publications for VLDLR were set to 16080122; 18364738
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)VLDLR was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)VLDLR was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)VLDLR was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen