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Hydrocephalus

Gene: L1CAM

Green List (high evidence)
L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous 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;X-linked Hydrocephalus with aqueductal stenosis;Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius;HSAS
Created: 25 Mar 2021, 4:39 p.m. | Last Modified: 25 Mar 2021, 4:39 p.m.
Panel Version: 2.51
Created: 25 Mar 2021, 4:39 p.m.
Last Modified: 25 Mar 2021, 4:39 p.m.
Panel version: 2.51

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Clear causation. Testing in clinical practice. Appropriate for hydrocephalus panel.
Created: 29 Mar 2017, 1:25 p.m.
Comment on mode of inheritance: I have not found clear evidence of signficant phenotypic involvement in heterozygous females.
Created: 29 Mar 2017, 1:24 p.m.
Large numbers of cases, lots of missense mutations but splicing, duplication mechanisms reported. Clear evidence for causation.
Created: 29 Mar 2017, 12:42 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000

Publications

Created: 29 Mar 2017, 12:42 p.m.

Panel version: 0.2

Details

Mode of Inheritance
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
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: L1CAM were changed from Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000; MASA syndrome; X-linked Hydrocephalus with aqueductal stenosis; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; HSAS to 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

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to L1CAM.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

29 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2017, Gel status: 3

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

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

29 Mar 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for L1CAM were set to Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000; MASA syndrome; X-linked Hydrocephalus with aqueductal stenosis; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; HSAS

29 Mar 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for L1CAM were set to 8947027; 11438988

9 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

L1CAM was added to Hydrocephaluspanel. Source: UKGTN Model of inheritance for gene L1CAM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

L1CAM was added to Hydrocephaluspanel. Source: Emory Genetics Laboratory

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

L1CAM was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

L1CAM was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen