Disease #00197 (SPG17 (paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver)), OMIM:270685)

Official abbreviation	SPG17
Name	paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver)
OMIM ID	270685
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	33
Phenotype entries for this disease	33
Associated with 1 gene	BSCL2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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33 entries on 1 page. Showing entries 1 - 33.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00002774	-	PubMed: Windpassinger 2004	-	-	-	Austria	-	-	-	-	-	SPG17	Silver syndrome; spastic paraparesis, amyotrophy hands	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002775	-	PubMed: Windpassinger 2004	-	-	-	Austria	-	-	-	-	-	SPG17	Silver syndrome; spastic paraparesis, amyotrophy hands	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002776	-	PubMed: Windpassinger 2004	-	-	-	Austria	-	-	-	-	-	SPG17	Silver syndrome; spastic paraparesis, amyotrophy hands	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002777	-	PubMed: Windpassinger 2004	-	-	-	Austria	-	-	-	-	-	SPG17	Silver syndrome; spastic paraparesis, amyotrophy hands	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002778	-	PubMed: Windpassinger 2004	-	-	-	Belgium	-	-	-	-	-	SPG17	Silver syndrome; spastic paraparesis, with distal amyotrophy always starting and predominating in legs	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002779	-	PubMed: Windpassinger 2004	-	-	-	Brazil	-	-	-	-	-	SPG17	Silver syndrome;	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002780	-	PubMed: Windpassinger 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SPG17	Silver syndrome;	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002796	-	PubMed: van de Warrenburg 2006	3generation family, 5 affecteds	-	no	Netherlands	-	-	-	-	-	SPG17	Silver syndrome; hereditary motor neuropathy, distal (dHMN)	BSCL2	BSCL2	1	5	María-Jesús Sobrido
00002797	-	PubMed: van de Warrenburg 2006	4generation family, 7 affecteds	-	no	Netherlands	-	-	0	-	-	SPG17	Silver syndrome; hereditary motor neuropathy, distal (dHMN)	BSCL2	BSCL2	1	7	María-Jesús Sobrido
00002800	-	PubMed: Cho 2007	3 generation family, 2 affected sisters, 1 affected son	-	no	Korea, South (Republic)	-	-	0	-	-	SPG17	Silver syndrome; hereditary motor neuropathy, distal (dHMN)	BSCL2	BSCL2	1	3	María-Jesús Sobrido
00002801	-	PubMed: Bienfait 2007	1 affected	?	?	Netherlands	-	-	0	-	-	SPG17	Silver syndrome; hereditary motor neuropathy, distal (dHMN); retained/brisk reflexes	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002804	-	PubMed: Rohkamm 2007	-	F	?	United Kingdom (Great Britain)	African	-	0	-	-	SPG17	Silver syndrome;	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002805	-	PubMed: Rohkamm 2007	-	-	-	Germany	-	-	0	-	-	SPG17	Silver syndrome;	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002832	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early onset; complicated form: spinal and cerebellar signs	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002835	-	-	-	-	-	Spain	-	-	-	-	-	SPG17	spastic paraplegia (SP); late onset, pure SP	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002837	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early-onset SP	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002840	-	-	1 unaffected carrier parent	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early-onset SP	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002842	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); late-onset, pure SP	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002843	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	SP; SS; dHMN; variability among patients: pure SP, SS, dHMN or subclinical signs	BSCL2	BSCL2	1	5	María-Jesús Sobrido
00002845	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); Silver Syndrome (SS); CMT2; variability among patients, all spectrum of phenotype: pure SP, SS, CMT2	BSCL2	BSCL2	1	6	María-Jesús Sobrido
00002848	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early -onset, complicated SP, mild MR, thin corpus callosum	BSCL2	BSCL2	1	2	María-Jesús Sobrido
00002849	-	-	-	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); young-onset SP, complicated form: pyramidal signs, sensory involvement (proprioceptive >tactile/pain), gait ataxia	BSCL2	BSCL2	1	5	María-Jesús Sobrido
00002850	-	-	1 unaffected carrier parent	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early-onset SP, complicated form: pyramidal signs, MR, visual impairment	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002852	-	-	1 unaffected carrier parent	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); SP, no other clinical data available	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002853	-	-	1 unaffected carrier parent	-	-	Spain	-	-	0	-	-	SPG17	spastic paraplegia (SP); early-onset, pure SP	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002856	-	PubMed: Irobi et al., Brain 2004	5 generation family, 17 mutationpositive reported	-	no	Belgium	-	-	-	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	17	María-Jesús Sobrido
00002860	-	PubMed: Cafforio et al., Neurol. Sci. 2008	2 generation family, 2 mutation positive reported	-	?	Italy	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	2	María-Jesús Sobrido
00002864	-	PubMed: Dierick et al., Brain 2008	-	?	?	Netherlands	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002865	-	PubMed: Dierick et al., Brain 2008	-	?	?	India	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002866	-	PubMed: Dierick et al., Brain 2008	-	?	?	Belgium	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002867	-	PubMed: Dierick et al., Brain 2008	-	?	?	Switzerland	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002898	-	PubMed: Kochanski et al., Neurol. Neurochir. 2007	3 generation family, 1 mutation positive reported	M	?	Poland	-	-	0	-	-	SPG17	Silver syndrome	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002901	-	PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010	5 generation family, 3 mutation positive reported	-	no	? (unknown)	-	-	0	-	-	SPG17	SS, dHMN, Asymptomatic	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	3	María-Jesús Sobrido

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