All individuals with variants in gene HSPB1

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

100 entries on 1 page. Showing entries 1 - 100.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00035949	-	-	-	-	-	Germany	-	-	-	-	-	?	since youth increasing atrophy of lower legs, Pes equinovarus, atrophy of hand muscles	1	1	Andreas Laner
00035950	-	-	-	-	-	Germany	-	-	-	-	-	?	hereditäre Neuropathie	1	1	Andreas Laner
00035951	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035952	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00056452	-	PubMed: Houlden 2008	2-geenration family, affected boy and possibly affected, deceased mother	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00056453	-	PubMed: James 2008	-	-	no	United Kingdom (Great Britain)	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	1	1	Johan den Dunnen
00056454	-	PubMed: Houlden 2008	2-generation family, 1 affected, unaffected heterozygous carrier parent/sister	M	yes	Pakistan	-	-	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00056455	-	PubMed: Evgrafov 2004	-	?	no	Belgium	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	1	1	Johan den Dunnen
00056456	-	PubMed: Benedetti 2010	2-generation family, affected mother daugther	F	no	Italy	-	-	-	-	-	CMT2	Charcot-Marie-Tooth disease 2; see paper ...	1	2	Johan den Dunnen
00056457	-	PubMed: Evgrafov 2004	6-generation family, 18 affecteds (8F, 10M)	F;M	no	Russian Federation	-	-	-	-	-	CMT2F	progressive symmetrical weakness, atrophy distal limb muscles initially involving legs particularly peroneal muscles, depressed or absent tendon reflexes, mild/moderate distal sensory abnormalities; age onset 15–25y	1	18	Johan den Dunnen
00056458	-	PubMed: Evgrafov 2004	-	-	no	Belgium	-	-	-	-	-	CMT2F	Charcot-Marie-Tooth disease, axonal, type 2F	1	1	Johan den Dunnen
00056459	-	PubMed: Houlden 2008	4-generation family, affected father/son	M	-	India	-	-	-	-	-	CMT2	see paper; ...	1	2	Johan den Dunnen
00056460	-	PubMed: Ikeda 2009	3-generation family, 3 affected males	M	no	Japan	-	-	-	-	-	HMN2	see paper; ...	1	3	Johan den Dunnen
00056461	-	PubMed: Evgrafov 2004	4-generation family, 4 afffecteds (F, 3M)	F;M	no	Croatia (Hrvatska)	-	-	-	-	-	HMN	neuropathy, distal hereditary motor	1	4	Johan den Dunnen
00056462	-	PubMed: Mandich 2010	2-generation family, affected father/son	M	no	Italy	-	-	-	-	-	neuropathy, peripheral	peripheral neuropathy, early-onset	1	2	Johan den Dunnen
00056463	-	PubMed: Luigetti 2010	-	F	no	Italy	-	>19y	-	-	-	CMT2	see paper; wasting and weakness distal muscles, primarily/mostly lower limbs and later upper limbs, ...	1	1	Johan den Dunnen
00056464	-	PubMed: Kijima 2005	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Japan	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	1	1	Johan den Dunnen
00056465	-	PubMed: Evgrafov 2004	2-generation family, affected father and brother/sister	F;M	no	Austria	-	-	-	-	-	HMN	neuropathy, distal hereditary motor	1	3	Johan den Dunnen
00056496	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00056497	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00056498	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00056499	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00056500	-	PubMed: Evgrafov 2004	-	-	no	-	United Kingdom (Great Britain)	-	-	-	-	HMN	distal hereditary motor neuropathy	1	1	Johan den Dunnen
00057162	-	PubMed: Benedetti 2010	-	M	no	Italy	-	>47y	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00057163	-	PubMed: Benedetti 2010	-	F	no	Italy	-	>52y	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00057165	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00057166	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00057167	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00057168	-	PubMed: Houlden 2008	9-generation family, 49 affecteds	M;F	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	1	49	Johan den Dunnen
00057169	-	PubMed: Houlden 2008	2-geenration family, 2 affected brothers and possibly affected, deceased father	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	1	2	Johan den Dunnen
00057170	-	PubMed: Houlden 2008	2-generation family, 1 affected, untested parents	M	no	India	-	-	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00057171	-	PubMed: Houlden 2008	2-generation family, 1 affected, untested parents	M	no	India	-	-	-	-	-	CMT2	see paper; ...	1	1	Johan den Dunnen
00074532	-	-	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Simona Capponi
00074533	-	-	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Simona Capponi
00208779	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0001288 (Gait disturbance); HP:0100022 (Abnormality of movement); HP:0007178 (Motor polyneuropathy); HP:0000759 (Abnormal peripheral nervous system morphology)	1	1	Andreas Laner
00218996	28902413-Pat6	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT2F	1	1	Johan den Dunnen
00218997	28902413-Pat7	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT2F	1	1	Johan den Dunnen
00263932	?	-	-	-	-	Spain	-	-	-	-	-	CMT2	-	1	1	Carmen Espinós
00296674	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of nervous system morphology (HP:0012639); Abnormal nerve conduction velocity (HP:0040129); Abnormality of the nervous system (HP:0000707); Sensorimotor neuropathy (HP:0007141)	1	1	Andreas Laner
00299999	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00300000	Pat-HSPB1-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300001	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300061	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300062	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00300117	Pat-HSPB1-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00314334	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00324634	Fam2	PubMed: Lin 2011	3-generation family, 3 affected (F, 2M)	M	-	Taiwan	Han Chinese	-	-	-	-	CMT	see paper; ...	1	3	Johan den Dunnen
00359003	176829	-	-	M	?	Germany	-	-	-	-	-	CMT2F	Myalgias, weakness and CK elevation (up to max 3000 U/L), marked calf hypertrophy, negative family history, EMG: pSA and myopathic, muscular biopsy: necrosis and small inflammatory infiltrates (therapy with cortisone, AZA, MTX unsuccessful), / (+) Myopathy,(+) Myalgia,(+) EMG abnormality,(+) EMG: myopathic abnormalities,(+) Necrotizing myopathy,(+) Abnormal skeletal muscle morphology,(+) Pain	1	1	Andreas Laner
00359273	F1	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	2	Johan den Dunnen
00359274	F1	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359275	F2	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; proximal weakness LL; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359276	F3	PubMed: Echaniz-Laguna 2017	-	-	-	Cote D'Ivoire (Ivory Coast)	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; cerebellar ataxia	1	1	Johan den Dunnen
00359277	F4	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	2	Johan den Dunnen
00359278	F4	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359279	F5	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; proximal weakness LL; spasticity lower legs; sensory involvement LL; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359280	F6	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359281	F7	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; Spasticity	1	1	Johan den Dunnen
00359282	F8	PubMed: Echaniz-Laguna 2017	-	-	-	Algeria	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359283	F9	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 550 (U/L)	1	1	Johan den Dunnen
00359284	F10	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359285	F11	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; proximal weakness LL; spasticity lower legs; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359286	F12	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359287	F13	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; Spasticity	1	1	Johan den Dunnen
00359288	F14	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359289	F15	PubMed: Echaniz-Laguna 2017	-	-	-	England	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359290	F16	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	2	Johan den Dunnen
00359291	F16	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359292	F17	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359293	F18	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	Italy	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	2	Johan den Dunnen
00359294	F18	PubMed: Echaniz-Laguna 2017	-	-	-	Italy	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359295	F19	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359296	F20	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359297	F21	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; CK level 300 (U/L); feet paresthesia	1	1	Johan den Dunnen
00359298	F22	PubMed: Echaniz-Laguna 2017	-	-	-	Algeria	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359299	F23	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	2	Johan den Dunnen
00359300	F23	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00359301	F24	PubMed: Echaniz-Laguna 2017	-	-	-	Algeria	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 300 (U/L)	1	1	Johan den Dunnen
00359302	F25	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; Spasticity; CK level 220 (U/L); spasticity lower legs	1	1	Johan den Dunnen
00359303	F26	PubMed: Echaniz-Laguna 2017	-	-	-	Armenia	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359304	F27	PubMed: Echaniz-Laguna 2017	family, 6 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	6	Johan den Dunnen
00359305	F27	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359306	F27	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359307	F27	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359308	F27	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359309	F27	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	1	1	Johan den Dunnen
00359310	F28	PubMed: Echaniz-Laguna 2017	-	-	-	Portugal	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	1	1	Johan den Dunnen
00374755	S-1196	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374756	S-5303	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00398497	402	PubMed: Ferese 2021	2-generation family, 1 affected, unaffected parents	F	-	Italy	-	>76y	-	-	-	CMT	Joint laxity (HP:0001388), Gait disturbance (HP:0001288), Foot dorsiflexor weakness (HP:0009027), Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)	1	1	Yvet den Hartog
00435111	-	-	-	?	-	Germany	-	-	-	-	-	HMSN	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00466208	340342	-	-	F	no	Germany	-	-	-	-	-	CMT2F	Fatigable weakness	1	1	Andreas Laner
00473052	Fam11837Pat165	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	yes	Iran	-	-	-	-	-	neuropathy	onset 52y, Lower limbs weakness, rapidly progressive; Fasciculations, all limbs, lower>upper; Stiffening of muscles; Shortness of breath; Atrophy of hand muscles; EMG: chronic anterior horn cell disease with upper motor involvement suggestive of distal SMA or HSP, HMN & familial ALS; Wheelchair bound.	1	1	Johan den Dunnen
00473182	Fam106689Pat351	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	no	Iran	-	-	-	-	-	neuropathy	Sporadic case, age 63y , onset 57y , distal lower muscle weakness, pes cavus, foot drop, decreased deep tendon reflexes(DTR) ,distal hereditary motor neuropathy (distal SMA) reported in EMG/NCV.	1	1	Johan den Dunnen
00473227	Fam110976Pat422	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	F	no	Iran	-	-	-	-	-	neuropathy	Distal muscle weakness, upper/lower, due to neuropathy; Foot dorsiflexor weakness; Maternal diabetes with onset 28y; Spondylosis in thoracic, and lumbo-sacral spine MRI; EMG-NCV: possibility of chronic anterior horn cell disease; No parental consanguinity.	1	1	Johan den Dunnen
00473493	Fam302097Pat848	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	no	Iran	-	-	-	-	-	MYOP	Sporadic case, age 45y , started 3y with exercise intolerance and fatigue , proximal lower muscle weakness, standing difficulty, exertional dyspnea and foot drop.	1	1	Johan den Dunnen
00473519	Fam8907356Pat891	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	no	Iran	-	-	-	-	-	SMA	onset 40y , lower muscle cramps, foot drop, lower muscle weakness with neuropathy, climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV.	1	1	Johan den Dunnen
00473824	Fam9706282Pat1298	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	F	yes	Iran	-	-	-	-	-	neuropathy	Vertical inheritance, multiple affected individuals, onset 4y earlier, upper and lower muscle weakness, cold induced muscle cramps, neuropathy, foot drop , distal sensory impairment, hyporeflexia, motor sensory axonal polyneuropathy reported in NCV, negative MLPA result for PMP22 dup/del.	1	1	Johan den Dunnen
00476118	MF145	PubMed: Beecroft 2020	analysis 2249 neurology patients	M	-	(Australia);(New Zealand)	-	-	-	-	-	MYOP	details not specified; no correlation clinical diagnosis with genetic diagnosis	1	1	Johan den Dunnen
00476141	ET1192	PubMed: Beecroft 2020	analysis 2249 neurology patients	F	-	(Australia);(New Zealand)	-	-	-	-	-	SPG	details not specified; no correlation clinical diagnosis with genetic diagnosis	1	1	Johan den Dunnen
00476532	WT146	PubMed: Beecroft 2020	analysis 2249 neurology patients	M	-	(Australia);(New Zealand)	-	-	-	-	-	?	details not specified; ncorrelation clinical diagnosis with genetic diagnosis	1	1	Johan den Dunnen

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Global Variome shared LOVD

HSPB1 (heat shock 27kDa protein 1)