L1CAM

L1 cell adhesion molecule
OMIM: 308840, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber L1CAM in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes L1CAM-related disease
Red L1CAM in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis 307000
Green L1CAM in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CRASH syndrome, MIM# 303350
Green L1CAM in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.27	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green L1CAM in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 MASA syndrome, MIM# 303350 L1 syndrome, MONDO:0017140
Green L1CAM in Mendeliome Version 1.3512	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 MASA syndrome, MIM# 303350 L1 syndrome, MONDO:0017140 Corpus callosum, partial agenesis of, MIM# 304100
Green L1CAM in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green L1CAM in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes L1 syndrome MONDO:0017140
Green L1CAM in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia, 308840 MASA syndrome, 303350 X-linked hydrocephalus, 307000
Green L1CAM in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.25 Component of the following Super Panels: Neuromuscular Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000
Green L1CAM in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MASA syndrome, 303350 (3)
Green L1CAM in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes X-linked hydrocephalus syndrome
Green L1CAM in Fetal anomalies Version 1.465	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000
Green L1CAM in Prepair 1000+ Level 2: Screening Version 2.14	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MASA syndrome, MIM#303350 Hydrocephalus, congenital, X-linked, MIM#307000
Red L1CAM in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000
Green L1CAM in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MASA syndrome, MIM#303350 Hydrocephalus, congenital, X-linked, MIM#307000