L1CAM

L1 cell adhesion molecule
OMIM: 308840
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
R-numbers: R61
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CRASH syndrome, OMIM:303350, MASA syndrome, OMIM:303350, Hydrocephalus due to aqueductal stenosis, OMIM:307000, Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000, Hydrocephalus with Hirschsprung disease, OMIM:307000
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Corpus callosum, partial agenesis of, OMIM:304100, CRASH syndrome, OMIM:303350, MASA syndrome, OMIM:303350, Hydrocephalus due to aqueductal stenosis, OMIM:307000, Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000, Hydrocephalus with Hirschsprung disease, OMIM:307000