Malformations of cortical development
Gene: VLDLR
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
Gyral simplification/pachygyria reported in this condition.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: VLDLR.
Source Expert Review Green was added to VLDLR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: vldlr has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: VLDLR.
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
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