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Severe Paediatric Disorders

Gene: L1CAM

Green List (high evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 15 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: L1CAM; Recommended initial gene rating: Green List (high evidence); Phenotypes: CRASH syndrome, 303350 (3) | Corpus callosum, partial agenesis of, 304100 (3) | Hydrocephalus due to aqueductal stenosis, 307000 (3) | Hydrocephalus with Hirschsprung disease, 307000 (3) | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3) | MASA syndrome, 303350 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive | X-linked recessive | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene L1CAM were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: L1CAM

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: L1CAM

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: L1CAM

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; MASA syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; Corpus callosum, partial agenesis of, 304100; CRASH syndrome, 303350 for gene: L1CAM

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to L1CAM.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to L1CAM. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: L1CAM was added gene: L1CAM was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: L1CAM was set to