Disease #05111 (HMN (neuropathy, motor, distal, hereditary (HMN)))

Official abbreviation	HMN
Name	neuropathy, motor, distal, hereditary (HMN)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	109
Phenotype entries for this disease	106
Associated with 2 genes	GBF1, WARS
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-11 01:33:03 +01:00 (CET)
Date last edited	2016-03-20 12:15:43 +01:00 (CET)

Individuals

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.

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Operator	Column type	Example	Matches
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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
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>=	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'

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109 entries on 2 pages. Showing entries 1 - 100.

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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
00056453	-	PubMed: James 2008	-	-	no	United Kingdom (Great Britain)	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	HSPB1	HSPB1	1	1	Johan den Dunnen
00056455	-	PubMed: Evgrafov 2004	-	?	no	Belgium	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	HSPB1	HSPB1	1	1	Johan den Dunnen
00056461	-	PubMed: Evgrafov 2004	4-generation family, 4 afffecteds (F, 3M)	F;M	no	Croatia (Hrvatska)	-	-	-	-	-	HMN	neuropathy, distal hereditary motor	HSPB1	HSPB1	1	4	Johan den Dunnen
00056464	-	PubMed: Kijima 2005	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Japan	-	-	-	-	-	HMN	Neuropathy, distal hereditary motor	HSPB1	HSPB1	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	HSPB1	HSPB1	1	3	Johan den Dunnen
00056500	-	PubMed: Evgrafov 2004	-	-	no	-	United Kingdom (Great Britain)	-	-	-	-	HMN	distal hereditary motor neuropathy	HSPB1	HSPB1	1	1	Johan den Dunnen
00057165	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00057166	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00057167	-	PubMed: Kijima 2005	-	-	-	Japan	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00094983	-	PubMed: Gregianin 2016, Journal: Gregianin 2016	3-generation family, 2 affected nieces, unaffected heterozygous carrier parents	F	-	Italy	Italian, south	-	-	-	-	HMN	see paper; ...	SIGMAR1	SIGMAR1	1	2	Johan den Dunnen
00094985	-	PubMed: Gregianin 2016, Journal: Gregianin 2016	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	HMN	see paper	SIGMAR1	SIGMAR1	1	2	Johan den Dunnen
00205494	-	PubMed: Sivakumar 2005	-	-	-	Bulgaria	-	-	-	-	-	HMN	multi-generation family, 21 affecteds, 5 tested, branch with unaffected carriers	GARS	GARS	1	21	Johan den Dunnen
00205497	-	PubMed: James 2006	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	4-generation family, affected mother, father, grandfather, 2 siblings	GARS	GARS	1	5	Johan den Dunnen
00205498	Fam	PubMed: Sivakumar 2005	multi-generation family, 8 affecteds, 13 unaffected carriers	-	-	Australia;United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	GARS	GARS	1	8	Johan den Dunnen
00205500	-	PubMed: Sivakumar 2005	-	-	-	France	Jewish-Sephardic	-	-	-	-	HMN	4-generation family, 6 affecteds	GARS	GARS	1	6	Johan den Dunnen
00205502	-	PubMed: James 2006	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	2-generation family, non-carrier parents	GARS	GARS	1	1	Johan den Dunnen
00205503	-	PubMed: Rohkamm 2007	-	-	-	Ghana	-	-	-	-	-	HMN	-	GARS	GARS	1	1	Johan den Dunnen
00205504	-	PubMed: Sivakumar 2005	-	-	-	Mongolia	-	-	-	-	-	HMN	multi-generation family, 17 affecteds, 17 tested	GARS	GARS	1	11	Johan den Dunnen
00219076	28902413-Pat86	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	HMN	HMN5B	REEP1	REEP1	2	1	Johan den Dunnen
00299985	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DCTN1	DCTN1	1	1	Johan den Dunnen
00299987	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00299999	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00300006	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300019	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	NEFL	NEFL	1	1	Johan den Dunnen
00300035	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DNM2	DNM2	1	1	Johan den Dunnen
00300037	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00300040	Pat-DYNC1H1-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00300041	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00300042	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00300051	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	GARS	GARS	1	1	Johan den Dunnen
00300052	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	GARS	GARS	1	1	Johan den Dunnen
00300062	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00300064	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300065	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300070	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300074	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	LMNA	LMNA	1	1	Johan den Dunnen
00300076	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	MFN2	MFN2	1	1	Johan den Dunnen
00300084	Pat13	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	MED25, PMP22	MED25, PMP22	2	1	Johan den Dunnen
00300089	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	REEP1	REEP1	1	1	Johan den Dunnen
00300103	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	SPTLC2	SPTLC2	1	1	Johan den Dunnen
00300106	Pat-DYNC1H1-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1	DYNC1H1	1	1	Johan den Dunnen
00300117	Pat-HSPB1-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00300123	Pat-IGHMBP2-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300124	Pat-IGHMBP2-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	IGHMBP2	IGHMBP2	1	1	Johan den Dunnen
00300141	Pat3	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	DYNC1H1, PMP22, REEP1	DYNC1H1, PMP22, REEP1	3	1	Johan den Dunnen
00300147	Pat-MFN2-c	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	MFN2	MFN2	1	1	Johan den Dunnen
00300151	Pat4	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	GARS, PMP22	GARS, PMP22	2	1	Johan den Dunnen
00303444	Fam1	Mendoza Ferreira ESHG2020 C20.2, PubMed: Mendoza-Ferreira 2020	3-generation family, 1 affected, unaffected non-carrier parents	M	-	Germany	-	-	-	-	-	HMN	see paper; ...	GBF1	GBF1	1	1	Johan den Dunnen
00303445	Fam2	Mendoza Ferreira ESHG2020 C20.2, PubMed: Mendoza-Ferreira 2020	5-generation family, 6 affected (3F, 3M)	F;M	-	Belgium	-	-	-	-	-	HMN	see paper; ...	GBF1	GBF1	1	5	Johan den Dunnen
00303446	Fam3	Mendoza Ferreira ESHG2020 C20.2, PubMed: Mendoza-Ferreira 2020	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	Old Order Amish	-	-	-	-	HMN	see paper; ...	GBF1	GBF1	1	1	Johan den Dunnen
00303447	Fam4	Mendoza Ferreira ESHG2020 C20.2, PubMed: Mendoza-Ferreira 2020	4-generation family, affected mother/son	F;M	-	Germany	-	-	-	-	-	HMN	see paper; ...	GBF1	GBF1	1	1	Johan den Dunnen
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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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)	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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)	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	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	HSPB1	HSPB1	1	1	Johan den Dunnen
00359311	F29	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	HSPB8	HSPB8	1	3	Johan den Dunnen
00359312	F29	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	HSPB8	HSPB8	1	1	Johan den Dunnen
00359313	F29	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	HSPB8	HSPB8	1	1	Johan den Dunnen
00359314	F30	PubMed: Echaniz-Laguna 2017	-	-	-	Gabon	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	HSPB8	HSPB8	1	1	Johan den Dunnen
00359315	F31	PubMed: Echaniz-Laguna 2017	-	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 530 (U/L)	HSPB8	HSPB8	1	1	Johan den Dunnen
00359316	F32	PubMed: Echaniz-Laguna 2017	family, 2 affected	-	-	France	-	-	-	-	-	HMN	see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	HSPB8	HSPB8	1	2	Johan den Dunnen
00359317	F32	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	HSPB8	HSPB8	1	1	Johan den Dunnen
00409258	FamAPatII3	PubMed: Tsai 2017	3-generation family, 6 affected (3F, 3M)	M	-	Taiwan	China;Han	-	-	-	-	HMN	see paper; ...	-	WARS	1	3	Johan den Dunnen
00409259	FamAPatIII2	PubMed: Tsai 2017	daughter	F	-	Taiwan	China;Han	-	-	-	-	HMN	see paper; ...	-	WARS	1	1	Johan den Dunnen
00409260	FamAPatIII3	PubMed: Tsai 2017	son	M	-	Taiwan	China;Han	-	-	-	-	HMN	see paper; ...	ABCC6	WARS	1	1	Johan den Dunnen
00409261	FamBPaII2	PubMed: Tsai 2017	3-generation family, 3 affected (3M)	M	-	Taiwan	-	-	-	-	-	HMN	see paper; ...	ABCC6	WARS	2	3	Johan den Dunnen

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Global Variome shared LOVD

NR2C2AP (nuclear receptor 2C2-associated protein)