Disease #01644 (ATS2 (Alport syndrome, type 2, autosomal recessive), OMIM:203780)

Official abbreviation	ATS2
Name	Alport syndrome, type 2, autosomal recessive
OMIM ID	203780
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	1009
Phenotype entries for this disease	1011
Associated with 1 gene	COL4A4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-02-15 12:37:44 +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.

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'

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1009 entries on 11 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11		Next ›	Last »

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
00091301	-	PubMed: Longo 2002	-	F	-	Italy	-	-	-	-	-	ATS2	Micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal;	COL4A3	COL4A3	2	1	Judy Savige
00091303	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	hearing loss; abnormal ocular	COL4A3	COL4A3	2	1	Judy Savige
00091307	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	26	Judy Savige
00091308	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091316	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091317	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091328	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	14	Judy Savige
00091334	-	PubMed: Heidet 2001	-	F;M	-	-	-	-	-	-	-	ATS2	20y / 25y renal failure; renal failure;	COL4A3	COL4A3	2	1	Judy Savige
00091339	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	11	Judy Savige
00091342	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091343	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091344	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	10	Judy Savige
00091345	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091349	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	5	Judy Savige
00091356	-	PubMed: Tazon Vega 2003	consanguineous	M	-	Spain	-	-	-	-	-	ATS2	37y renal failure; hearing loss; no ocular phenotype; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091358	-	PubMed: Rana 2007	-	M	-	Italy	-	-	-	-	-	ATS2	hearing loss; abnormal ocular	COL4A3	COL4A3	1	1	Judy Savige
00091360	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091365	-	PubMed: Longo 2006	consanguineous	M	-	-	Iraq;Jewish	-	-	-	-	ATS2	Micro-haematuria, proteinuria. Type III Spinal Muscular Atrophy; 15y renal failure; hearing loss; abnormal ocular; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091367	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091368	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	35	Judy Savige
00091373	-	PubMed: Hou 2007	-	M	-	China	Han chinese	-	-	-	-	ATS2	haematuria proteinuria; 28y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Judy Savige
00091374	-	PubMed: Heidet 2001	-	F	-	-	-	-	-	-	-	ATS2	23y renal failure; renal failure;	COL4A3	COL4A3	2	1	Judy Savige
00091378	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091380	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	38y renal failure; no hearing loss; no ocular phenotype; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091381	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091384	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091385	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	Microscopic hematuria.	COL4A3	COL4A3	1	3	Judy Savige
00091386	-	PubMed: Pierides 2009	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	progressive kidney failure	COL4A3	COL4A3	1	4	Judy Savige
00091387	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091388	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	2	Judy Savige
00091390	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091394	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	2	1	Judy Savige
00091397	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	2	1	Judy Savige
00091398	-	PubMed: Longo 2002	-	F	-	Italy	-	-	-	-	-	ATS2	micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal;	COL4A3	COL4A3	2	1	Judy Savige
00091399	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091402	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091403	-	PubMed: Tazon Vega 2003	-	M	-	-	-	-	-	-	-	ATS2	52y renal failure; no hearing loss; no ocular phenotype; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091405	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091406	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	Haematuria	COL4A3	COL4A3	1	1	Judy Savige
00091408	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	2	1	Judy Savige
00091411	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	Micro-haematuria	COL4A3	COL4A3	1	1	Judy Savige
00091412	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	hearing loss; no ocular phenotype;	COL4A3	COL4A3	2	1	Judy Savige
00091413	-	PubMed: Tazon Vega 2003	consanguineous	M	-	Spain	-	-	-	-	-	ATS2	hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091414	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091415	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091418	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	Micro-haematuria	COL4A3	COL4A3	1	1	Judy Savige
00091419	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	3	Judy Savige
00091423	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091424	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091425	-	PubMed: Heidet 2001	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	microscopic hematuria, Proteinuria,	COL4A3	COL4A3	1	1	Judy Savige
00091426	-	PubMed: Voskarides 2008	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	progressive kidney failure	COL4A3	COL4A3	1	7	Judy Savige
00091427	-	PubMed: Pierides 2009	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	progressive kidney failure	COL4A3	COL4A3	1	6	Judy Savige
00091428	-	PubMed: Heidet 2001	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091429	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091430	-	PubMed: Tazon Vega 2003	-	M	-	Spain	-	-	-	-	-	ATS2	34y renal failure; hearing loss; no ocular phenotype; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091431	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	Micro-haematuria	COL4A3	COL4A3	1	1	Judy Savige
00091432	-	PubMed: Lemmink 1994	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091433	-	PubMed: Lemmink 1994	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091434	-	PubMed: Lemmink 1994	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091437	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091440	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091441	-	PubMed: Ding 1995	2-generation family, affected female, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	ATS2	20y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091442	-	PubMed: Mochizuki 1994	-	F	-	Netherlands	-	-	-	-	-	ATS2	10y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091443	-	PubMed: Lemmink 1994	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091444	-	PubMed: Mochizuki 1994	consanguineous	F	-	-	Belgian	-	-	-	-	ATS2	11y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091445	-	PubMed: Lemmink 1994	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	2	1	Judy Savige
00091446	-	PubMed: Knebelman 1995	-	M	-	France	-	-	-	-	-	ATS2	14y renal failure; hearing loss; renal failure;	COL4A3	COL4A3	2	1	Judy Savige
00091447	-	PubMed: Knebelman 1995	-	F	-	France	-	-	-	-	-	ATS2	15y renal failure; hearing loss; renal failure;	COL4A3	COL4A3	2	1	Judy Savige
00091448	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091449	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	4	Judy Savige
00091450	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091453	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091454	-	PubMed: Cook 2008	-	F	-	United States	African American	-	-	-	-	ATS2	15y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	1	2	Judy Savige
00091455	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091456	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091457	-	PubMed: Cook 2008	Father is a carrier-asymptomatic)	F	-	United States	African American	-	-	-	-	ATS2	15y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	1	2	Judy Savige
00091458	-	PubMed: Tazon Vega 2003	consanguineous	F	-	Spain	-	-	-	-	-	ATS2	16y renal failure; hearing loss; no ocular phenotype; renal failure	COL4A3	COL4A3	1	1	Judy Savige
00091460	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	1	1	Judy Savige
00091511	-	PubMed: Storey 2013	-	M	-	-	English	-	-	-	-	ATS2	37y renal failure; no hearing loss; no ocular phenotype; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091512	-	PubMed: Storey 2013	-	F	-	-	English	-	-	-	-	ATS2	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091513	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	no hearing loss; no ocular phenotype; glomerulus normal;	COL4A3	COL4A3	2	1	Helen Storey
00091514	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091515	-	PubMed: Storey 2013	Dec‚Äôd	M	-	-	-	-	-	-	-	ATS2	26y renal failure; hearing loss; no ocular phenotype; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091516	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	10y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091517	-	PubMed: Storey 2013	-	M	-	-	English	-	-	-	-	ATS2	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091518	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	hearing loss; no ocular phenotype; glomerulus abnormal;	COL4A3	COL4A3	2	1	Helen Storey
00091519	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	17y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091520	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	no hearing loss; no ocular phenotype; glomerulus abnormal;	COL4A3	COL4A3	2	1	Helen Storey
00091521	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	2	1	Helen Storey
00091522	-	PubMed: Storey 2013	-	F	-	United Kingdom (Great Britain)	Mixed British	-	-	-	-	ATS2	23y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091523	-	PubMed: Storey 2013	-	F	-	-	English	-	-	-	-	ATS2	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091524	-	PubMed: Storey 2013	-	M	-	India	Punjabi	-	-	-	-	ATS2	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091525	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	17y renal failure; hearing loss; renal failure; glomerulus abnormal;	COL4A3	COL4A3	2	1	Helen Storey
00091526	-	PubMed: Storey 2013	-	M	-	Australia	Tasmanian, British origin	-	-	-	-	ATS2	23y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091527	-	PubMed: Storey 2013	-	F	-	Australia	British	-	-	-	-	ATS2	15y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091528	-	PubMed: Storey 2013	-	F	-	Australia	British	-	-	-	-	ATS2	hearing loss; no ocular phenotype; glomerulus abnormal;	COL4A3	COL4A3	2	1	Helen Storey
00091529	-	PubMed: Storey 2013	-	F	-	Australia	British	-	-	-	-	ATS2	25y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	COL4A3	COL4A3	2	1	Helen Storey
00091664	-	-	-	F	-	Hungary	-	-	-	-	-	ATS2	-	COL4A3	COL4A3	2	1	Gabor Kovacs
00091830	-	PubMed: Storey 2013	parents are cousin	F	yes	-	-	-	-	-	-	ATS2	12y renal failure; hearing loss; renal failure, lomerulus abnormal	COL4A4	COL4A4	2	1	Helen Storey
00091831	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	17y renal failure; hearing loss; renal failure, lomerulus abnormal	COL4A4	COL4A4	2	1	Helen Storey

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Global Variome shared LOVD

ERLIN1 (ER lipid raft associated 1)