All individuals with variants in gene KMT2B

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.

45 entries on 1 page. Showing entries 1 - 45.

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
00288203	Pat13	PubMed: Lee 2019	-	-	-	United States	-	-	-	-	-	?	adenoidal hypertrophy, flexion contracture, muscle stiffness, spastic gait, dysphonia, dystonia, chorea, involuntary movements, scissor gait, bradykinesia, paroxysmal dyskinesia, precocious puberty	1	1	Johan den Dunnen
00296383	-	-	-	F	-	-	-	-	-	-	-	?	Generalized dystonia (HP:0007325); Abnormality of the face (HP:0000271); Abnormality of the peripheral nervous system (HP:0410008)	1	1	Andreas Laner
00299703	-	-	-	F	-	-	-	-	-	-	-	?	Dystonia (HP:0001332); Generalized dystonia (HP:0007325); Laryngeal dystonia (HP:0012049)	1	1	IMGAG
00306236	patient	PubMed: Nakamura 2020	-	F	no	Japan	Japanese	-	-	-	-	DYT	see paper; ...	1	1	Tadashi Kaname
00311422	Pat1	PubMed: Faundes 2018	-	F	-	-	-	-	-	-	-	NDD	intra-uterine growth retardation, feeding difficulties; severe developmental delay/intellectual disability; abnormal gait, behavioral problems; patent ductus arteriosus, long hands, narrow hands, broad halluces; short stature (SD -2.7), low weight (SD -2.9), microcephaly (SD -3.34); craniofacial dysmorphisms; nystagmus, gastrostomy, urinary incontinence, constipation, growth hormone deficiency	1	1	Johan den Dunnen
00311951	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311952	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311953	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311954	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311955	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311956	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311957	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311958	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311959	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311960	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311961	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311962	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311963	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311964	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311965	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311966	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00311967	-	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312030	DECIPHER326751	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312031	DECIPHER285201	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312032	DECIPHER326759	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312033	DECIPHER326752	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312034	DECIPHER257844	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	macrotia, adrenal hypoplasia, hypothyroidism, ptosis, downturned corners of mouth, long palpebral fissure, micrognathia, aplasia/hypoplasia skin, long eyelashes, intellectual disability, intra uterine growth retardation	1	1	Johan den Dunnen
00312035	DECIPHER339538	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	growth delay, hyperactivity, intellectual disability	1	1	Johan den Dunnen
00312036	DECIPHER285198	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312037	DECIPHER295701	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312038	DECIPHER280902	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	fine hair, dystonia	1	1	Johan den Dunnen
00312039	DECIPHER285035	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312040	DECIPHER326748	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312041	DECIPHER285200	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312042	DECIPHER285199	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312043	DECIPHER326749	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312044	DECIPHER295183	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312045	DECIPHER326750	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312046	DECIPHER317705	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00312047	DECIPHER3776	PubMed: Faundes 2018	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	feeding difficulties in infancy, hypospadias, short stature, microcephaly, aplasia cutis congenita of scalp, intellectual disability	1	1	Johan den Dunnen
00391790	171P	-	-	M	no	Spain	-	-	-	-	-	DYT28	-	1	1	Alejandro Brea-Fernández
00398354	-	-	-	M	-	-	-	-	-	-	-	DYT28	craniofacial dystonia (HP:0012179)	1	1	Bianca Rose Grosz
00399242	Pat1	PubMed: Martin 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	-	-	-	-	-	-	ID	see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood	2	1	Johan den Dunnen
00453423	-	-	-	F	-	- (not applicable)	white	-	-	-	-	DYT	HP:0001332, HP:0002510	1	1	Marketa Wayhelova
00460229	313001	-	-	F	no	Germany	-	-	-	-	-	ID	Upslanted palpebral fissure, Neurodevelopmental delay, Delayed speech and language development, Atypical behavior, Short stature, Failure to thrive, Clinodactyly of the 5th finger	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

KMT2B (lysine methyltransferase 2B)