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Malformations of cortical development

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 19 Jan 2021, 3 p.m. | Last Modified: 19 Jan 2021, 3 p.m.
Panel Version: 2.36
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least sic variants reported six unrelated cases, in which cerebellar hypoplasia was evident in five cases and two of these had cerebral gyral simplification.
Created: 19 Jan 2021, 3 p.m. | Last Modified: 19 Jan 2021, 3 p.m.
Panel Version: 2.36
Created: 19 Jan 2021, 3 p.m.
Last Modified: 19 Jan 2021, 3 p.m.
Panel version: 2.131

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gyral simplification

Publications

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

Created: 15 Jan 2021, 4:52 p.m.
Last Modified: 15 Jan 2021, 4:52 p.m.
Panel version: 2.24

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Gyral simplification/pachygyria reported in this condition.
Sources: Expert list
Created: 24 Aug 2020, 7:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 24 Aug 2020, 7:19 a.m.

Panel version: 2.7

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: VLDLR.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to VLDLR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: vldlr has been classified as Amber List (Moderate Evidence).

19 Jan 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: VLDLR.

19 Jan 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050) to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050

24 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: VLDLR was added gene: VLDLR was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VLDLR were set to 16080122; 18364738; 18326629; 22700954; 22973972 Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050) Review for gene: VLDLR was set to GREEN gene: VLDLR was marked as current diagnostic