All individuals with variants in gene SH3TC2

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.

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016423	-	-	-	F	yes	Libya	-	-	-	-	-	RP	ataxia, retinal dystrophy, neuropathy	1	1	Jill Urquhart
00037079	-	-	-	-	-	Germany	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease (CMT)	1	1	Andreas Laner
00037080	-	-	-	-	-	Germany	-	-	-	-	-	?	developmental retardation, autistic features; 1 older sister is also retarded with learning disorder	1	1	Andreas Laner
00037081	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037082	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037083	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037084	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037085	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00144430	-	-	-	M	-	(Germany)	-	-	-	-	-	?	HP:0007178 (Motor polyneuropathy)	1	1	IMGAG
00145074	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145075	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145076	-	PubMed: Lupski 2010	-	-	-	-	-	-	-	-	-	CMT1	-	1	1	Johan den Dunnen
00145077	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145078	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145079	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145080	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145081	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145082	-	PubMed: Fischer 2011	-	-	-	-	-	-	-	-	-	CMT1	-	1	1	Johan den Dunnen
00145083	-	PubMed: Lupo 2009	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145084	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145085	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145086	-	PubMed: Roberts 2010	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145087	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145088	-	PubMed: Claramunt 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145089	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145090	-	PubMed: Baets 2011	-	-	-	-	-	-	-	-	-	HMSN	-	1	1	Johan den Dunnen
00145091	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145092	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145093	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145094	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145095	-	PubMed: Lupo 2009	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145096	-	PubMed: Gooding 2005	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145097	-	PubMed: Roberts 2010	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145098	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145099	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00145100	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00207404	111314	-	-	F	yes	Turkey	-	-	-	-	-	neuropathy, peripheral	demyelinating axonal neuropathy	1	1	Andreas Laner
00207578	-	-	-	F	no	France	-	29y	-	-	-	CMT4C	sensori-motor demyelinating neuropathy in the lower limbs, scoliosis	1	1	Justine Lerat
00207579	-	-	-	F	no	France	-	29y	-	-	-	CMT	sensori-motor demyelinating neuropathy in the lower limbs, scoliosis	2	1	Justine Lerat
00207580	-	-	-	F	no	France	-	68y	-	-	-	CMT	sensori-motor demyelinating neuropathy, scoliosis, hearing loss	2	1	Justine Lerat
00207581	-	-	-	F	no	France	-	71y	-	-	-	CMT	sensori-motor demyelinating neuropathy in the lower limbs, scolisis, hearing loss	2	1	Justine Lerat
00207582	-	-	-	M	no	France	-	83y	-	-	-	CMT	sensori-motor demyelinating neuropathy and hearing loss	1	1	Justine Lerat
00208528	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0000759 (Abnormal peripheral nervous system morphology); HP:0001271 (Polyneuropathy)	1	1	Andreas Laner
00208532	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0040036 (Onychogryposis of fingernail)	1	1	Andreas Laner
00208547	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0001761 (Pes cavus)	1	1	Andreas Laner
00210010	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0002460 (Distal muscle weakness)	1	1	Andreas Laner
00219078	28902413-Pat88	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT4C	2	1	Johan den Dunnen
00219079	28902413-Pat89	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT4C; no family history	1	1	Johan den Dunnen
00219080	28902413-Pat90	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT4C; no family history	2	1	Johan den Dunnen
00219081	28902413-Pat91	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT4C; no family history	2	1	Johan den Dunnen
00219082	28902413-Pat92	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT4C; no family history	2	1	Johan den Dunnen
00219083	28902413-Pat93	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT4C	1	1	Johan den Dunnen
00266170	-	-	-	M	-	-	-	-	-	-	-	-	Respiratory insufficiency (HP:0002093); Tetraplegia (HP:0002445); Acute demyelinating polyneuropathy (HP:0007131)	2	1	Andreas Laner
00293779	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	47	Mohammed Faruq
00293780	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293781	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	211	Mohammed Faruq
00293782	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00293783	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293784	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293785	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293786	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293787	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00293788	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00293789	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295912	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324); Scoliosis (HP:0002650); Abnormal peripheral nervous system morphology (HP:0000759)	1	1	Andreas Laner
00295991	-	-	-	F	-	-	-	-	-	-	-	?	Abnormal peripheral nervous system morphology (HP:0000759); Sensory neuropathy (HP:0000763)	1	1	Andreas Laner
00296562	-	-	-	M	-	-	-	-	-	-	-	?	Mixed demyelinating and axonal polyneuropathy (HP:0007327)	1	1	Andreas Laner
00300027	Pat-SH3TC2-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300028	Pat-SH3TC2-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300029	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300096	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300097	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300098	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300099	Pat-SH3TC2-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300112	Pat-SH3TC2-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300114	Pat15	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	neuropathy	-	1	1	Johan den Dunnen
00300127	Pat16	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300128	Pat-SH3TC2-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300134	Pat-SH3TC2-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300144	Pat-SH3TC2-c	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300153	Pat-SH3TC2-d	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300157	Pat-SH3TC2-e	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300160	Pat-SH3TC2-f	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300161	Pat-SH3TC2-g	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300162	Pat-SH3TC2-h	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300163	Pat-SH3TC2-i	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300164	Pat-SH3TC2-j	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300165	Pat-SH3TC2-k	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300166	Pat-SH3TC2-l	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300167	Pat-SH3TC2-m	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00305018	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00311036	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of movement (HP:0100022); Motor delay (HP:0001270); Neurodevelopmental abnormality (HP:0012759); Gait disturbance (HP:0001288); Pes cavus (HP:0001761); Abnormality of the lower limb (HP:0002814); Demyelinating peripheral neuropathy (HP:0007108); Peripheral neuropathy (HP:0009830)	2	1	Andreas Laner
00374369	S-246	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Developmental delay, inability to walk or sit without support, pigmented sparse hair, hypotonia and pyloric stenosis	1	1	Johan den Dunnen
00374488	S-1739	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Neuropathy and myopathy	1	1	Johan den Dunnen
00374489	S-3102	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Delayed motor development, abnormal gait, scoliosis and poor scholastic performance	1	1	Johan den Dunnen
00396030	FM-08	PubMed: Ababneh 2021	4-generation family, affected 2 brothers/sister, unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	1	3	Johan den Dunnen
00397779	PaC2:IV-1	PubMed: Kanwal 2021	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	>06y	-	-	-	CMT	Full term pregnancy, delayed motor development (HP:0001270); 3y-falls frequently (HP:0002359); impaired vibration sensation (HP:0006886); absent deep tendon reflexes (HP:0001284); scoliosis (HP:0002650); feet disformities; sensory loss (HP:0002936)	1	1	Sarah El-Bestawi
00397836	PaC3:IV-1	PubMed: Kanwal 2021	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	>10y	-	-	-	CMT	3y-falls frequently (HP:0002359); difficultu standing from sitting position (HP:0003698); scoliosis (HP:0002650); short statur (HP:0004322); difficulty walking, but unaided (HP:0002355); low distal CMAP amplitudes of median and peroneal nerves were absent; ulnar and tibial nerves were decreased; decreased motor NCV (HP:0003431); decreased nerve NCV(HP:0003448); feet disformities; sensory loss (HP:0002936)	1	1	Sarah El-Bestawi
00398040	FC523	PubMed: Lee 2019	2-generation family, 1 affected, unaffected parents	F	no	Korea	Korea	-	-	-	-	CMT	Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Lower limb amyotrophy (HP:0007210), Scoliosis (HP:0002650), Areflexia (HP:0001284)	2	1	Farina Kemper
00398059	FC657	PubMed: Lee 2019	3-generation family, 1 affected, unaffected heterozygous carrier mother/sister/daughter	M	no	Korea	Korea	-	-	-	-	CMT	see paper; walking difficulties (HP:0002355), pes cavus (HP:0001761), hearing impairment (HP:0000365), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340), diplopia (HP:0000651), facial palsy (HP:0010628), lower limb amyotrophy (HP:0007210), no pyramidal signs (-HP:0002650), areflexia (HP:0001284)	2	1	Farina Kemper

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Global Variome shared LOVD

SH3TC2 (SH3 domain and tetratricopeptide repeats 2)