L1CAM

L1 cell adhesion molecule
OMIM: 308840, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green L1CAM in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	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 1.14	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 Version 2.106 Latest signed off version: v2.3 (2 Mar 2020)	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
Green L1CAM in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.226	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Expert list Phenotypes X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Red L1CAM in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.104 Latest signed off version: v3.2 (13 Feb 2020)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Other Phenotypes arthrogryposis congenital hypopituitarism
Green L1CAM in Hereditary spastic paraplegia - childhood onset Version 2.40 Latest signed off version: v2.18 (8 Oct 2020)	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 Hereditary spastic paraplegia X-linked hydrocephalus, MASA syndrome, 303350
Green L1CAM in Hereditary spastic paraplegia - adult onset Version 1.23 Latest signed off version: v1.12 (15 Oct 2020)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Hereditary spastic paraplegia, 308840 MASA syndrome, 303350 X-linked hydrocephalus, 307000
Red L1CAM in Neurodegenerative disorders - adult onset Version 2.174 Latest signed off version: v2.31 (8 Oct 2020)	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 Version 1.678 Latest signed off version: v1.92 (21 Aug 2020)	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 2.28 Latest signed off version: v2.2 (13 Feb 2020) 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 1.385	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Green L1CAM in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1136 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 Hydrocephalus due to aqueductal stenosis, 307000MASA syndrome, 303350CRASH syndrome, 303350Hydrocephalus with Hirschsprung disease, 307000Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000Corpus callosum, partial agenesis of, 304100 MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME (MASA)
Red L1CAM in Hereditary neuropathy NOT PMP22 copy number Version 1.27 Latest signed off version: v1.2 (27 Feb 2020)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies
Green L1CAM in Severe Paediatric Disorders Version 1.78	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hydrocephalus with Hirschsprung disease, 307000 Corpus callosum, partial agenesis of, 304100 MASA syndrome, 303350 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 CRASH syndrome, 303350 Hydrocephalus due to aqueductal stenosis, 307000