Gene table



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

L1CAM
L1 cell adhesion molecule



Xq28
* CRASH syndrome - L1CAM (15.63)
* CRASH syndrome - HSAS (15.63)
* MASA syndrome - L1CAM (15.63)
* Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.63)

LAMA2
Laminin alpha 2 chain of merosin



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

LAMA4
Laminin alpha 4



6q21
* Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.59)

LAMB2
Laminin, beta 2 (laminin S)



3p21
* Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.19)

LAMP2
Lysosomal-associated membrane protein 2 precursor



Xq24
* Danon disease - (5.12)
* Glycogen storage disease IIb - GSD2B (5.12)

LARGE
Like-glycosyltransferase



22q12.3-q13.1
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.33)

LDB3
LIM domain binding 3



10q22
* myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.4, 10.33)
* cardiomyopathy, dilated 1C - CMD1C (4.12, 5.4, 10.33)

LDHA
Lactate dehydrogenase A



11p15.4
* Glycogen storage disease XI - GSD11 (9.14)
* Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.14)

LIMS2
LIM and senescent cell antigen-like domains 2



2q14.3
* Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.43)

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 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* restrictive dermopathy - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)

LMOD3
Leiomodin 3 (fetal)



3p14.1
* Nemaline myopathy - NEM10 (3.10)

LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)



2p25.1
* Reccurrent myoglobinuria, autosomal recessive - (9.27)

LRP4
LDL receptor related protein 4



11p11.2
* Congenital myasthenic syndrome - CMS17 (11.27)

LRSAM1
leucine rich repeat and sterile alpha motif containing 1



9q33.3
* Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.55)