RELN

reelin
OMIM: 600514, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red RELN in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	Unknown	Sources Expert Review Red Literature Phenotypes Hirschsprung disease HD Risk of Hirschsprung Disease
Red RELN in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Red RELN in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lissencephaly, Recessive Lissencephaly 2 Lissencephaly 2 (Norman-Roberts type), 257320
Green RELN in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 2, 257320
Red RELN in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN
Green RELN in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Lissencephaly 2 (Norman-Roberts type) 257320 Type 2 lissencephaly and cerebellar hypoplasia
Red RELN in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Ankylosing spondylitis
Red RELN in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Lissencephaly, Recessive Lissencephaly 2 Lissencephaly 2 (Norman-Roberts type), 257320
Green RELN in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lissencephaly 2, 257320
Red RELN in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red
Green RELN in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 2
Green RELN in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 2 319306
Green RELN in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Lissencephaly 2 (Norman-Roberts type), OMIM:257320 Norman-Roberts syndrome, MONDO:0009760 {Epilepsy, familial temporal lobe, 7}, OMIM:616436 familial temporal lobe epilepsy 7, MONDO:0014639 Tags missense
Green RELN in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 2 (Norman-Roberts type), OMIM:257320 neurodevelopmental disorder, MONDO:0700092
Red RELN in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Lissencephaly 2, 257320
Red RELN in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH