L1CAM

L1 cell adhesion molecule
OMIM: 308840, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
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