All individuals with variants in gene ACTG1

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.

66 entries on 1 page. Showing entries 1 - 66.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	5	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	2	1	Yu Sun
00059130	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00080050	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00117275	S1572	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	no	France	-	-	-	-	-	deafness	-	1	1	David Baux
00204325	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204326	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204327	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204328	61458	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	BRWS2	no short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204329	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204330	LR06-241	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	BRWS	short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, no hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204331	LR04-298	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	BRWS	no short stature, no microcephaly postnatal; seizures; trigonocephaly, hypertelorism, congenital ptosis; pachygyria only anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204332	58431	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	BRWS	see paper;..., no short stature, no microcephaly postnatal; hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204333	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204334	LR03-033	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	BRWS	no short stature, microcephaly postnatal; intellectual disability, hearing loss, no seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204335	LP92-083	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	BRWS	see paper; ..., short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly	1	1	SIB - Livia Famiglietti
00204336	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204337	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204338	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00204339	-	-	-	-	-	-	-	-	-	-	-	DFNA20;DFNA26	-	1	1	SIB - Livia Famiglietti
00267235	Pat1	PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020	-	M	no	Mexico	-	-	-	-	-	BRWS	see paper; ...	1	1	Oscar F Chacon-Camacho
00267236	Pat2	PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020	-	M	no	Mexico	Mexican	06y	-	-	-	BRWS	see paper; ...	1	1	Oscar F Chacon-Camacho
00285150	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285152	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285154	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285155	-	PubMed: Park 2013	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285156	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285157	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285158	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285160	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285161	-	PubMed: Mutai 2013	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285166	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285168	-	PubMed: Richards 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285169	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285170	-	PubMed: Baek 2012	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285171	-	PubMed: Duzkale 2013, PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285172	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285173	-	PubMed: Richards 2008	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285174	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285175	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285176	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285178	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285179	-	PubMed: Duzkale 2013, PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285181	-	PubMed: Liu 2008	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285182	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285186	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285188	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285189	-	-	-	-	-	-	-	-	-	-	-	deafness	hearing loss (HL), non-syndromic	1	1	Global Variome, with Curator vacancy
00285190	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285191	-	PubMed: de Heer 2009	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285192	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285854	FamPat1	PubMed: Vandervore 2019	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	no	Netherlands	-	-	-	-	-	CRS	see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)	1	2	Johan den Dunnen
00285856	LP98-096	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	England	-	-	-	-	-	BRWS	short stature, microcephaly postnatal; intellectual disability, o hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly	1	1	Johan den Dunnen
00285857	11-10857	PubMed: Rivière 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	BRWS	seizures; hypertelorism, high-arched eyebrows, congenital ptosis; coloboma	1	1	Johan den Dunnen
00285886	PatA4	PubMed: Verloes 2015	-	-	-	-	-	-	-	-	-	BRWS	-	1	1	Johan den Dunnen
00287104	LP98-111a2	PubMed: di Donato, 2016	-	M	-	-	-	-	-	-	-	BRWS2	-	1	1	Camille Cenni
00287170	-	PubMed: Lee, 2018	-	M	no	Korea	-	-	-	-	-	DFNA20;DFNA26	severe to profound bilateral deafness and cleft lip and palate	1	2	Camille Cenni
00287173	IV1	PubMed: Wang, 2018	4 generation family with 10 affected individuals	F	no	China	-	-	-	-	-	DFNA20;DFNA26	moderate hearing loss downward slope into higher frequencies with a gradual worsening over time affecting all frequencies	1	10	Camille Cenni
00288259	S840:II.1	PubMed: Morín et al, 2009	-	F	no	-	-	-	-	-	-	DFNA20;DFNA26	bilateral, symmetrical and progressive sensorineural hearing loss at mid- and high frequencies (a down-sloping audiometric profile) of post-lingual onset (third decade)	1	2	Camille Cenni
00288260	S582:II.3	PubMed: Morín, 2009	-	F	no	-	-	-	-	-	-	DFNA20;DFNA26	post-lingual, bilateral, symmetrical and progressive sensorineural hearing impairment that affect the mid- and high frequencies. hearing problems at school age.	1	4	Camille Cenni
00289370	W99-060; IV:7	PubMed: van Wijk 2003	-	M	no	Germany	-	-	-	-	-	DFNA20;DFNA26	Before they were 15 years old, the patients had already shown gently downsloping audiograms. By ages 15 to 20 and 25 to 40 years, hearing loss had become severe to profound at 8 kHz and 1 to 4 kHz, respectively. The thresholds at 0.25 to 0.5 kHz showed more gradual progression at an average increase of about 1.5 to 2 dB/y.	1	19	Camille Cenni
00327082	-	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00395564	RP-0270	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	posterior polar cataract, rod-cone dystrophy, strabismus, congenital sensorineural hearing impairment, delayed speech and language development, global developmental delay, mild intellectual disability	1	1	LOVD
00419683	194981	-	-	M	no	Germany	-	-	-	-	-	BRWS2	Global developmental delay	1	1	Andreas Laner
00449771	-	-	-	F	-	- (not applicable)	white	-	-	-	-	ID	HP:0002342, HP:0000085, HP:0002280, HP:0000540, HP:0000718	1	1	Marketa Wayhelova
00458115	patient	PubMed: Graziani 2022	-	F	no	-	-	-	-	-	-	BRWS2	see paper; ...	1	1	Ludovico Graziani

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Global Variome shared LOVD

ACTG1 (actin, gamma 1)