Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit (IRCCS Fondazione Stella Maris)

General information

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit
IRCCS Fondazione Stella Maris
Pisa
Italy

Organization ID: 507178

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 241

Gene

GeneSubmissionsLast Updated
AARS22Jul 27, 2021
ABCD12Mar 14, 2021
AFG3L25Jul 27, 2021
AHDC11Jul 27, 2021
AMACR1Mar 14, 2021
AMPD21Jul 27, 2021
ANO103Jul 27, 2021
APOB1Mar 14, 2021
APTX2Jul 27, 2021
ARSA1Jul 27, 2021
ATM6Jul 27, 2021
ATP13A21Jul 27, 2021
ATP1A21Mar 14, 2021
ATP2B31Jul 27, 2021
ATP7B1Jul 27, 2021
C11orf652Mar 14, 2021
C19orf121Mar 14, 2021
C1QTNF3-AMACR1Mar 14, 2021
CACNA1A5Jul 27, 2021
CACNA1G6Jul 27, 2021
CACNB41Jul 27, 2021
CCDC88C2Jul 27, 2021
CEP2903Jul 27, 2021
CLCN21Jul 27, 2021
CLN61Jul 27, 2021
COQ46Mar 14, 2021
COQ8A5Jul 27, 2021
CYP7B11Mar 14, 2021
DAB11Jul 27, 2021
DARS22Jul 27, 2021
DNMT13Jul 27, 2021
ELOVL41Jul 27, 2021
ERCC42Mar 14, 2021
EXOSC31Mar 14, 2021
EXOSC81Jul 27, 2021
FA2H1Jul 27, 2021
FAT21Jul 27, 2021
GALC2Jul 27, 2021
GJC23Jul 27, 2021
GLB11Mar 14, 2021
HARS19Mar 14, 2021
HSD17B42Jul 27, 2021
INCA11Mar 14, 2021
ITPR15Jul 27, 2021
JMJD88Jul 27, 2021
KCNA22Mar 14, 2021
KCNC31Mar 14, 2021
KCND33Jul 27, 2021
KIF1A3Jul 27, 2021
KIF1C1Mar 14, 2021
LAMA12Mar 14, 2021
LYST3Jul 27, 2021
MFN21Jul 27, 2021
MKS11Jul 27, 2021
MMACHC2Jul 27, 2021
MME1Mar 14, 2021
MTPAP1Jul 27, 2021
NAGLU1Mar 14, 2021
OPA12Mar 14, 2021
PEX101Mar 14, 2021
PIK3R51Mar 14, 2021
PLA2G63Jul 27, 2021
PMM22Mar 14, 2021
PNPLA612Jul 27, 2021
POLG3Mar 14, 2021
POLR1C2Jul 27, 2021
POLR3A3Jul 27, 2021
PPT11Jul 27, 2021
PRKCG9Jul 27, 2021
PRNP1Mar 14, 2021
PSEN11Mar 14, 2021
PUM11Jul 27, 2021
RARS22Jul 27, 2021
RNF1701Jul 27, 2021
RNF2162Jul 27, 2021
SACS5Jul 27, 2021
SCN2A1Jul 27, 2021
SCN8A1Mar 14, 2021
SEPSECS1Mar 14, 2021
SETX6Jul 27, 2021
SLC1A31Jul 27, 2021
SLC25A461Jul 27, 2021
SLC2A12Mar 14, 2021
SPAST1Mar 14, 2021
SPG111Mar 14, 2021
SPG78Jul 27, 2021
SPTAN11Mar 14, 2021
SPTBN24Jul 27, 2021
STUB112Jul 27, 2021
STXBP13Jul 27, 2021
SYNE110Jul 27, 2021
SYNE22Jul 27, 2021
TMEM2404Jul 27, 2021
TMEM671Jul 27, 2021
TPP11Jul 27, 2021
TRPC31Mar 14, 2021
TTBK22Jul 27, 2021
TTPA1Mar 14, 2021
TUBB31Jul 27, 2021
WFS17Jul 27, 2021

Condition

NameSubmissionsLast Updated
Adrenoleukodystrophy2Mar 14, 2021
Alzheimer disease, type 31Mar 14, 2021
Amyotrophic lateral sclerosis type 41Mar 14, 2021
Ataxia, sensory, autosomal dominant1Jul 27, 2021
Ataxia, spastic, 2, autosomal recessive1Mar 14, 2021
Ataxia-hypogonadism-choroidal dystrophy syndrome8Jul 27, 2021
Ataxia-oculomotor apraxia type 12Jul 27, 2021
Ataxia-telangiectasia syndrome6Jul 27, 2021
Autosomal dominant optic atrophy classic form2Mar 14, 2021
Cerebellar ataxia3May 22, 2020
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1Mar 14, 2021
Cerebellar atrophy2Sep 7, 2019
Charcot-Marie-Tooth disease, type 2A2A1Jul 27, 2021
Charlevoix-Saguenay spastic ataxia2Jul 27, 2021
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1Jul 27, 2021
Choreoathetosis2Sep 7, 2019
Cobalamin C disease2Jul 27, 2021
Coenzyme Q10 deficiency, primary, 45Jul 27, 2021
Cognitive impairment1May 22, 2020
Congenital disorder of glycosylation, type Ia2Mar 14, 2021
Distal muscle weakness2Sep 7, 2019
Drooling1May 22, 2020
Dysarthria4Sep 7, 2019
Dysmetria4May 22, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Mar 14, 2021
Epileptic encephalopathy, early infantile, 322Mar 14, 2021
Episodic ataxia type 25Jul 27, 2021
Familial isolated deficiency of vitamin E1Mar 14, 2021
GLUT1 deficiency syndrome 12Mar 14, 2021
Gait ataxia1May 22, 2020
Gordon Holmes syndrome2Jul 27, 2021
Hammertoe2Sep 7, 2019
Hereditary spastic paraplegia 76Jul 27, 2021
Infantile neuroaxonal dystrophy2Jul 27, 2021
Intellectual disability4Sep 7, 2019
Joint laxity2Sep 7, 2019
Joubert syndrome 52Jul 27, 2021
Kufor-Rakeb syndrome1Jul 27, 2021
Leukodystrophy, hypomyelinating, 22Jul 27, 2021
Leukoencephalopathy with ataxia1Jul 27, 2021
Leukoencephalopathy, progressive, with ovarian failure2Jul 27, 2021
Microcephaly2Sep 7, 2019
Mild global developmental delay1May 22, 2020
Motor delay2Sep 7, 2019
Muscular hypotonia1May 22, 2020
Neonatal pseudo-hydrocephalic progeroid syndrome3Jul 27, 2021
Nystagmus2Sep 7, 2019
Oculomotor apraxia2Sep 7, 2019
Peripheral neuropathy2Sep 7, 2019
Perrault syndrome 12Jul 27, 2021
Pes planus2Sep 7, 2019
Pontocerebellar hypoplasia type 62Jul 27, 2021
Pontocerebellar hypoplasia, type 1b1Mar 14, 2021
Poretti-Boltshauser syndrome2Mar 14, 2021
Postural instability1May 22, 2020
Progressive spastic paraparesis1May 22, 2020
Scoliosis2Sep 7, 2019
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis3Mar 14, 2021
Spastic ataxia92Jul 27, 2021
Spastic ataxia 5, autosomal recessive2Mar 14, 2021
Spastic paraplegia 30, autosomal recessive2Jul 27, 2021
Spinocerebellar ataxia 411Mar 14, 2021
Spinocerebellar ataxia 424Jul 27, 2021
Spinocerebellar ataxia 431Mar 14, 2021
Spinocerebellar ataxia 4810Jul 27, 2021
Spinocerebellar ataxia type 111Mar 14, 2021
Spinocerebellar ataxia type 131Mar 14, 2021
Spinocerebellar ataxia type 149Jul 27, 2021
Spinocerebellar ataxia type 19/223Jul 27, 2021
Spinocerebellar ataxia type 214Jul 27, 2021
Spinocerebellar ataxia type 281Mar 14, 2021
Spinocerebellar ataxia type 294Jul 27, 2021
Spinocerebellar ataxia type 52Mar 14, 2021
Spinocerebellar ataxia, autosomal recessive 103Jul 27, 2021
Spinocerebellar ataxia, autosomal recessive 142Jul 27, 2021
Spinocerebellar ataxia, autosomal recessive 162Jul 27, 2021
Spinocerebellar ataxia, autosomal recessive 88Jul 27, 2021
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Jul 27, 2021
Spongiform encephalopathy with neuropsychiatric features1Mar 14, 2021
Tremor2Sep 7, 2019
Urinary urgency2Sep 7, 2019
Wolfram syndrome 12Mar 14, 2021
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