| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malformations of cortical development v2.133 | VLDLR | Eleanor Williams Tag for-review was removed from gene: VLDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | VLDLR | Sarah Leigh commented on gene: VLDLR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | VLDLR |
Eleanor Williams Source Expert Review Green was added to VLDLR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.36 | VLDLR | Sarah Leigh edited their review of gene: VLDLR: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.36 | VLDLR | Sarah Leigh Classified gene: VLDLR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.36 | VLDLR | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.36 | VLDLR | Sarah Leigh Gene: vldlr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.35 | VLDLR | Sarah Leigh Tag for-review tag was added to gene: VLDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.35 | VLDLR | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.24 | VLDLR | Ian Berry reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16174313, 6080122; Phenotypes: Gyral simplification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.7 | VLDLR |
Zornitza Stark 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 Added comment: Gyral simplification/pachygyria reported in this condition. Sources: Expert list |
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