Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

L1CAM
L1 cell adhesion molecule



Xq28
* CRASH syndrome - L1CAM (15.87)
* CRASH syndrome - HSAS (15.87)
* MASA syndrome - L1CAM (15.87)
* Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.87)

LAMA2
Laminin alpha 2 chain of merosin



6q22-q23
* Muscular dystrophy, congenital merosin-deficient - MDC1A (1.37, 2.1)
* LGMDR23 - (1.37, 2.1)

LAMA4
Laminin alpha 4



6q21
* Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.73)

LAMA5
Laminin, Alpha 5



20q13.33
* Presynaptic congenital myasthenic syndrome - (11.38)

LAMB2
Laminin, beta 2 (laminin S)



3p21
* Congenital myasthenic syndrome with nephrotic syndrome - NPHS5 (11.34)

LAMP2
Lysosomal-associated membrane protein 2 precursor



Xq24
* Danon disease - (5.18)
* Glycogen storage disease IIb - GSD2B (5.18)

LARGE1
LARGE xylosyl- and glucuronyltransferase 1



22q12.3
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.24, 2.38)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.24, 2.38)

LAS1L
Las1-like ribosome biogenesis factor



Xq12
* Spinal muscular atrophy with respiratory distress (SMARD) - (12.52)

LDB3
LIM domain binding 3



10q22
* myofibrillar myopathy ZASP-related - MFM4 (4.19, 5.5, 10.106, 10.26, 10.41)
* cardiomyopathy, dilated 1C - CMD1C (4.19, 5.5, 10.106, 10.26, 10.41)
* Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.19, 5.5, 10.106, 10.26, 10.41)
* Left ventricular noncompaction 3 - LVNC3 (4.19, 5.5, 10.106, 10.26, 10.41)

LDHA
Lactate dehydrogenase A



11p15.4
* Glycogen storage disease XI - GSD11 (9.19)
* Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.19)

LIG3
Ligase III DNA ATP-Dependent



17q12
* Mitochondrial DNA depletion syndrome 20 (MNGIE type) - MTDPS20 (17.54)

LIMS2
LIM and senescent cell antigen-like domains 2



2q14.3
* Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.55)

LITAF
Lipopolysaccharide-induced TNF factor



16p13.3-p12
* Hereditary motor and sensory, type 1C - CMT1C (14.3)

LMNA
Lamin A/C



1q22
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.3, 1.4, 2.17, 10.39, 14.81)
* Hutchinson-Gilford progeria syndrome - HGPS (1.3, 1.4, 2.17, 10.39, 14.81)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.3, 1.4, 2.17, 10.39, 14.81)
* restrictive dermopathy - (1.3, 1.4, 2.17, 10.39, 14.81)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.3, 1.4, 2.17, 10.39, 14.81)
* Cardiomyopathy, dilated, 1A - CMD1A (1.3, 1.4, 2.17, 10.39, 14.81)
* Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.3, 1.4, 2.17, 10.39, 14.81)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.3, 1.4, 2.17, 10.39, 14.81)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.3, 1.4, 2.17, 10.39, 14.81)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.3, 1.4, 2.17, 10.39, 14.81)

LMOD2
Leiomodin 2



7q31.32
* Dilated cardiomyopathy, 2G - CMD2G (10.87)

LMOD3
Leiomodin 3 (fetal)



3p14.1
* Nemaline myopathy - NEM10 (3.12)

LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)



2p25.1
* Reccurrent myoglobinuria, autosomal recessive - (9.32)

LRIF1
Ligand-Dependent Nuclear Receptor-Interacting Factor 1



1p13.3
* Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)

LRP10
Low Density Lipoprotein Receptor-Related Protein 10



14q11.2
* Amyotrophic lateral sclerosis - (12.89)

LRP12
Low density lipoprotein receptor-related protein 12



8q22.3
* Oculopharyngodistal myopathy 1 - OPDM1 (5.23, 12.81)
* Amyotrophic lateral sclerosis 28 - ALS28 (5.23, 12.81)

LRP4
LDL receptor related protein 4



11p11.2
* Congenital myasthenic syndrome - CMS17 (11.25)

LRSAM1
Leucine rich repeat and sterile alpha motif containing 1



9q33.3
* Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.61)