L1CAM

L1 cell adhesion molecule
OMIM: 308840, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green L1CAM in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Alder Hey - Erasmus MC Phenotypes Hydrocephalus with Hirschsprung disease, 307000 Tags monogenic-polygenic
Amber L1CAM in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
Green L1CAM in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Corpus callosum, partial agenesis of, OMIM:304100 CRASH syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 MASA syndrome, OMIM:303350
Red L1CAM in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert review Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350
Green L1CAM in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Expert list Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000
Red L1CAM in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Red Other Phenotypes arthrogryposis congenital hypopituitarism
No list L1CAM in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Cerebellar hypoplasia
Green L1CAM in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list UKGTN Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000
Amber L1CAM in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000
Red L1CAM in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Green L1CAM in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME PARTIAL AGENESIS OF THE CORPUS CALLOSUM HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS SPASTIC PARAPLEGIA X-LINKED TYPE 1
Green L1CAM in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100
Red L1CAM in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Green L1CAM 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Corpus callosum, partial agenesis of, OMIM:304100 CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000
Red L1CAM in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies
Green L1CAM in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000 Tags monogenic-polygenic