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Disease
Laboratory
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
AR
Kennedy disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
Leber hereditary optic neuropathy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1
AGPAT2
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly / subcortical band heterotopia
PAFAH1B1
Lissencephaly due to LIS1 mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly 3
TUBA1A
Lissencephaly due to TUBA1A mutation
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly, X-linked / subcortical band heterotopia
DCX
Lissencephaly type 1 due to doublecortin gene mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)
HADHA
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
MUC1-VNTR insertion
MUC1
MUC1-related autosomal dominant tubulointerstitial kidney disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mental retardation, X-linked, syndromic, Borck type
EIF2S3
MEHMO syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction
OTX2
Syndromic microphthalmia type 5
,
Combined pituitary hormone deficiencies, genetic forms
,
Butterfly-shaped pigment dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Microtia, hearing impairment, and cleft palate
HOXA2
Bilateral microtia-deafness-cleft palate syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myhre syndrome (hot spot mutation - p.I500)
SMAD4
Myhre syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G)
MT-TK
MERRF
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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