L1CAM gene related symptoms and diseases

All the information presented here about the L1CAM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to L1CAM gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Adducted thumb Common - Between 50% and 80% cases
Agenesis of corpus callosum Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with L1CAM gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hydrocephalus
  • Hemiplegia/hemiparesis
  • Spastic paraplegia
  • Aqueductal stenosis
  • Microcephaly
  • Strabismus
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Cognitive impairment

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to L1CAM gene

Here you will find a list of rare diseases related to the L1CAM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MASA SYNDROME


Alternate names

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked, thumb, congenital clasped, with mental retardation, gareis-mason syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, clasped thumb and mental retardation, spg1, mental retardation, aphasia, shufflin

Description

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

Most common symptoms of MASA SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MASA SYNDROME

SOURCES: OMIM ORPHANET

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Alternate names

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus, hsas1, hycx, aqueductal stenosis, x-linked, bickers-adams syndrome, x-linked acqueductal stenosis, xlas, hydrocephalus, x-linked, x-linked hydrocephalus with stenosis of aqueduct of sylvius, x-linked hsas, hsas

Description

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

Most common symptoms of HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

SOURCES: OMIM ORPHANET

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


Alternate names

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Most common symptoms of HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

SOURCES: OMIM

X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


Description

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Most common symptoms of X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

SOURCES: OMIM ORPHANET MESH

X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1


Alternate names

X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1 Is also known as spg1


More info about X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1

SOURCES: ORPHANET


Potential gene panels for L1CAM gene

HSP, X-Linked Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, X-Linked Evaluation that also includes the following genes: L1CAM PLP1

More info about this panel

HSP, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART

More info about this panel

HSP, Supplemental Sporadic Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26

More info about this panel

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

More info about this panel

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked hydrocephalus Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the L1CAM gene.

More info about this panel

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel

L1CAM Related Disorders - L1CAM Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the L1CAM gene.

More info about this panel

Agenesis of the Corpus Callosum Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Agenesis of the Corpus Callosum that also includes the following genes: SLC12A6 MRPS16 ARX L1CAM

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel

Comprehensive Hydrocephalus Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hydrocephalus Panel that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

L1CAM deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the L1CAM gene.

More info about this panel

L1CAM sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the L1CAM gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

L1CAM. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus, X-linked (sequence analysis of L1CAM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the L1CAM gene.

More info about this panel

Spastic Paraplegia 1 (sequence analysis of L1CAM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the L1CAM gene.

More info about this panel

Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2

More info about this panel

X-linked spastic paraplegia types 1 and 2, MASA, CRASH and Pelizaeus-Merbancher syndromes (sequence analysis of L1CAM and PLP1 genes) Panel

Portugal.

By CGC Genetics X-linked spastic paraplegia types 1 and 2, MASA, CRASH and Pelizaeus-Merbancher syndromes (sequence analysis of L1CAM and PLP1 genes) that also includes the following genes: L1CAM PLP1

More info about this panel

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Hydrocephalus, X-linked (deletions/duplications analysis of L1CAM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus, X-linked (deletions/duplications analysis of L1CAM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the L1CAM gene.

More info about this panel

X-LINKED HYDROCEPHALUS - MASA SYNDROME Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the L1CAM gene.

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

L1 Syndrome via L1CAM Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

L1 syndrome (L1CAM) Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the L1CAM gene.

More info about this panel

SPG1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the L1CAM gene.

More info about this panel

MASA syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the L1CAM gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Single gene testing L1CAM Panel

Germany.

By CeGaT GmbH

This panel specifically test the L1CAM gene.

More info about this panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

More info about this panel

L1 cell adhesion molecule Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the L1CAM gene.

More info about this panel

Hereditary Spastic Paraplegia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel

CRASH syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the L1CAM gene.

More info about this panel

MASA syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the L1CAM gene.

More info about this panel

Spastic paraplegia 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the L1CAM gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

CRASH syndrome Panel

Slovakia.

By MedGene

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus Panel

Slovakia.

By MedGene

This panel specifically test the L1CAM gene.

More info about this panel

MASA syndrome Panel

Slovakia.

By MedGene

This panel specifically test the L1CAM gene.

More info about this panel

Spastic paraplegia 1 Panel

Slovakia.

By MedGene

This panel specifically test the L1CAM gene.

More info about this panel

Invitae Hereditary Spastic Paraplegia X-linked Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia X-linked Panel that also includes the following genes: SLC16A2 KDM5C ABCD1 L1CAM PLP1

More info about this panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2

More info about this panel

Hydrocephalus, X-linked: L1CAM gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the L1CAM gene.

More info about this panel

Hydrocephalus, X-linked: L1CAM gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the L1CAM gene.

More info about this panel

MASA syndrome: L1CAM gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the L1CAM gene.

More info about this panel

SPASTIC PARAPLEGIA A.R Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.R that also includes the following genes: SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART SPG21 ZFYVE26 FA2H AP5Z1

More info about this panel

Hydrocephalus Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hydrocephalus that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel

X-Linked Hydrocephalus with Aqueductal Stenosis: L1CAM Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the L1CAM gene.

More info about this panel

X-Linked Hydrocephalus with Aqueductal Stenosis: L1CAM Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the L1CAM gene.

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Spastic Paraplegia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

L1CAM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the L1CAM gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Hirschsprung Disease Panel Panel

Finland.

By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF

More info about this panel

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Finland.

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

More info about this panel

X-linked hydrocephalus with stenosis of aqueduct of Sylvius Panel

Spain.

By Bioarray

This panel specifically test the L1CAM gene.

More info about this panel

CRASH SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the L1CAM gene.

More info about this panel

X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the L1CAM gene.

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) that also includes the following genes: ABCD1 L1CAM PLP1

More info about this panel

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS (X-LINKED HYDROCEPHALUS) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the L1CAM gene.

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel

Partial Agenesis of Corpus Callosum , Sequencing L1CAM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the L1CAM gene.

More info about this panel

X-Linked Hydrocephalus , Sequencing L1CAM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the L1CAM gene.

More info about this panel

MASA Syndrome , Sequencing L1CAM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the L1CAM gene.

More info about this panel

X-Linked Hydrocephalus , Deletions-Duplications (MLPA) L1CAM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the L1CAM gene.

More info about this panel

Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: ECE1 EDN3 EDNRB GDNF L1CAM RET

More info about this panel

Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Panel

Spain.

By Reference Laboratory Genetics Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel

Hereditary Spastic Paraplegia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2

More info about this panel

Syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HDC KRT74 ACAT1 TBATA NOS3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more