Hydrocephalus
Gene: L1CAMComment 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;HSASCreated: 25 Mar 2021, 4:39 p.m. | Last Modified: 25 Mar 2021, 4:39 p.m.
Panel Version: 2.51
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
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
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
Source NHS GMS was added to L1CAM.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for L1CAM was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Publications for L1CAM were set to 8947027; 11438988
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)
L1CAM was added to Hydrocephaluspanel. Source: Emory Genetics Laboratory
L1CAM was created by oniblock
L1CAM was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen