VLDLR

very low density lipoprotein receptor
OMIM: 192977, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red VLDLR in Cerebral vascular malformations Level 2: Neurology Version 5.3 Latest signed off version: v5.2 (12 Aug 2026)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Green VLDLR in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar Hypoplasia
Green VLDLR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Green VLDLR in Malformations of cortical development Level 2: Neurology Version 8.8 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050
Green VLDLR in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	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
Red VLDLR in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Green VLDLR in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Green VLDLR in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050
Amber VLDLR in Early onset or syndromic epilepsy Level 2: Neurology Version 9.74 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags watchlist
Green VLDLR in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 (CMARQ1)
Green VLDLR in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
Red VLDLR in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH