Disease #05342 (CAKUT (kidney and urinary tract, anomalies, congenital (CAKUT)))

Official abbreviation	CAKUT
Name	kidney and urinary tract, anomalies, congenital (CAKUT)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	212
Phenotype entries for this disease	212
Associated with 5 genes	CHRNA3, DSTYK, FOXD2, SLIT3, TBX18
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-11-10 19:49:59 +01:00 (CET)
Date last edited	2017-11-10 19:51:20 +01:00 (CET)

Individuals

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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'
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^	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'
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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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212 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00132974	29100090-PatDC18	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	Europe	-	-	-	-	CAKUT	renal agenesis (right, vesicoureteral reflux, hydronephrosis, cysts, patent foramen ovale	SLIT3	SLIT3	1	1	Johan den Dunnen
00132975	29100090-FamDC14	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-genertion family, heterozygous carrier father	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	WNT5A	WNT5A	1	2	Johan den Dunnen
00132976	29100090-FamDC17	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-genertion family, heterozygous carrier mother	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left, vesicoureteral reflux, hydronephrosis; coarctation aortae, absent gallbladder, bifid uvula	HSPA4L	HSPA4L	1	2	Johan den Dunnen
00132977	29100090-FamDC19	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	T	T	1	1	Johan den Dunnen
00132978	29100090-FamDC20	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis right	SETBP1	SETBP1	1	1	Johan den Dunnen
00132979	29100090-FamDC1	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-genertion family, heterozygous carrier father	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal hypoplasia bilateral; branchio-oto-renal syndrome features	EYA1	EYA1	1	2	Johan den Dunnen
00132980	29100090-FamDC2	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal hypoplasia left; synechiae vulvae	GATA3	GATA3	1	1	Johan den Dunnen
00132981	29100090-FamDC3	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	PAX2	PAX2	1	1	Johan den Dunnen
00132982	29100090-FamDC4	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-genertion family, heterozygous carrier father	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal hypoplasia bilateral, cysts; bilateral nervus opticus coloboma, atrial septum defect, obesity	PAX2	PAX2	1	2	Johan den Dunnen
00132983	29100090-FamDC5	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal hypoplasia bilateral, vesicoureteral reflux. hydronephrosis; hyperuricaemia	UMOD	UMOD	1	1	Johan den Dunnen
00132984	29100090-FamDC6	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, multicystic dysplastic kidney bilateral, vesicoureteral reflux; epispadia	HNF1B	HNF1B	1	1	Johan den Dunnen
00132985	29100090-FamDC7	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	2-genertion family, heterozygous carrier mother	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal dysplasia left	SIX5	SIX5	1	2	Johan den Dunnen
00132986	29100090-FamDC8	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, multicystic dysplastic kidney left, congenital megaureter	GREB1L	GREB1L	1	1	Johan den Dunnen
00132987	29100090-FamDC9	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left; unicornate uterus, agenesis of left ovary	GREB1L	GREB1L	1	1	Johan den Dunnen
00132988	29100090-FamDC10	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal dysplasia left, duplication ureter	GREB1L	GREB1L	1	1	Johan den Dunnen
00132989	FamDC11	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	GREB1L	GREB1L	1	1	Paula Rozenfeld
00132990	FamDC12	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected mother	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis right	GREB1L	GREB1L	1	1	Paula Rozenfeld
00132991	FamDC13	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected sister (VUR), mother (uterus anomaly)	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis bilateral, bladder agenesis; Potter sequence	GREB1L	GREB1L	1	1	Paula Rozenfeld
00132992	FamDC14	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	GREB1L	GREB1L	1	1	Paula Rozenfeld
00132993	FamDC15	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	GREB1L	GREB1L	1	1	Paula Rozenfeld
00132994	FamDC16	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected sister (VUR), fatehr (?)	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	GREB1L	GREB1L	1	1	Paula Rozenfeld
00147062	29100091-Fam1	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (F, 2M), unaffected carrier mother	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	GREB1L	GREB1L	1	3	Johan den Dunnen
00147063	29100091-Fam2	PubMed: de Tomasi 2017	2-generation family, 4 affecteds (3F, M)	F;M	-	France	-	-	-	-	-	CAKUT	2 affected unilateral cases, 2 deceased bilateral cases	GREB1L	GREB1L	1	4	Johan den Dunnen
00147064	29100091-Fam3	PubMed: de Tomasi 2017	2-generation family, 4 affecteds (F, 3M)	F;M	-	France	-	-	-	-	-	CAKUT	2 affected unilateral cases, 2 deceased bilateral cases	GREB1L	GREB1L	1	4	Johan den Dunnen
00147065	29100091-Fam4	PubMed: de Tomasi 2017	2-generation family, 2 affecteds (F, M), unaffected carrier mother	F;M	-	France	-	-	-	-	-	CAKUT	2 deceased bilateral cases	GREB1L	GREB1L	1	2	Johan den Dunnen
00147066	29100091-Fam5	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (2F, M)	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	GREB1L	GREB1L	1	3	Johan den Dunnen
00147067	29100091-Fam6	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147068	29100091-Fam7	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	F	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147069	29100091-Fam8	PubMed: de Tomasi 2017	2-generation family, 3 affecteds	-	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	GREB1L	GREB1L	1	3	Johan den Dunnen
00147070	29100091-Fam9	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (2F, M)	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	GREB1L	GREB1L	1	3	Johan den Dunnen
00147071	29100091-Fam10	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147072	29100091-Fam11	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147073	29100091-Fam12	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147074	29100091-Fam13	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147075	29100091-Fam14	PubMed: de Tomasi 2017	2-generation family, 2 affecteds (F, M), unaffected carrier sib	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 1 deceased bilateral case	GREB1L	GREB1L	1	2	Johan den Dunnen
00147076	29100091-Fam15	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier father	F	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00147077	29100091-Fam16	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case	GREB1L	GREB1L	1	1	Johan den Dunnen
00231057	-	-	-	M	-	-	-	-	-	-	-	CAKUT	-	HNF1B	HNF1B	1	1	Vincent Guigonis
00231079	-	-	-	F	-	-	-	-	-	-	-	CAKUT	-	HNF1B	HNF1B	1	1	Vincent Guigonis
00231080	-	-	-	F	-	-	-	-	-	-	-	CAKUT	-	HNF1B	HNF1B	1	1	Vincent Guigonis
00231103	-	-	-	M	-	-	-	-	-	-	-	CAKUT	-	HNF1B	HNF1B	1	1	Vincent Guigonis
00269855	B1402	PubMed: Mann 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Macedonia	-	-	-	-	-	CAKUT	bilateral vesicoureteral reflux, grade IV recurrent vesicoureteral reflux, post ureteral reimplantation, chronic kidney disease (stage 2); no dysautonomic manifestations	CHRNA3	CHRNA3	1	1	Johan den Dunnen
00269856	B1717-21	PubMed: Mann 2019	2-generation family, 2 affected (2M), unaffected heterozygous carrier parents	M	yes	-	Arab	-	-	-	-	CAKUT	non-neurogenic, neurogenic bladder, bilateral vesicoureteral reflux, grade V bilateral hydronephrosis, atrophic left kidney, chronic kidney disease (stage 2), impaired pupillary light reflex, orthostatic hypotension	CHRNA3	CHRNA3	1	2	Johan den Dunnen
00269857	B1717-22	PubMed: Mann 2019	-	M	yes	-	Arab	-	-	-	-	CAKUT	recurrent urinary tract infections, impaired pupillary light reflex	CHRNA3	CHRNA3	1	1	Johan den Dunnen
00269858	GM-21	PubMed: Mann 2019	2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents	M	yes	Pakistan	-	-	-	-	-	CAKUT, ID	hypertelorism, broad nasal root, intellectual disability, non-neurogenic, neurogenic bladder, left hydronephrosis, right cystic kidney, hypospadias, impaired pupillary light reflex, flat cardiotocography tracing in utero	CHRNA3	CHRNA3	2	2	Johan den Dunnen
00269859	GM-22	PubMed: Mann 2019	-	F	yes	Pakistan	-	-	-	-	-	CAKUT	voiding dysfunction recurrent urinary tract infections, , impaired pupillary light reflex, flat cardiotocography tracing in utero, gastresophageal reflux, failure to thrive	CHRNA3	CHRNA3	1	1	Johan den Dunnen
00303417	family	Riedhammer ESHG2020 C14.1	6-generation family, 4 affected (F, 3M), , unaffected heterozygous carrier parents/relatives	F;M	yes	-	Arab	-	-	-	-	CAKUT	-	FOXD2	FOXD2	1	1	Johan den Dunnen
00311131	GM10-21	PubMed: Connaughton 2020	-	F	-	Netherlands	-	-	-	-	-	CAKUT	renal ultrasound normal; downslanting palpebral fissures; hypotonia, intellectual disability, stereotypic movements	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311132	GM1-21	PubMed: Connaughton 2020	-	M	-	United States	-	-	-	-	-	CAKUT	upper urinary tract renal agenesis, lower urinary tract hypospadias, cryptorchidism, chordee, Müllerian duct remnants; bicuspid aortic valve; small hands & feet; skin: facial dysmorphsims, convex dysplastic finger nails, hypoplastic toenails; feeding problems, oral phase dysphagia, intra-uterine growth retardation, growth delay; microcephaly, developmental delay, hypotonia, tethered cord	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311133	GM3-21	PubMed: Connaughton 2020	-	M	-	United States	-	-	-	-	-	CAKUT	upper urinary tract renal ultrasound normal, lower urinary tract enuresis, incontinence; patent ductus arteriosus; facial dysmorphsims; dental caries; developmental delay, autistic spectrum	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311134	GM9-21	PubMed: Connaughton 2020	-	F	-	-	white	-	-	-	-	CAKUT	upper urinary tract hypoplastic pelvic kidney (R) detected by “reverse phenotyping”; facial dysmorphisms (triangular face, broad neck, broad nasal bridge), scoliosis; single palmar crease on left, tapered fingers, tapered lower extremities; developmental delay, auditory attention, startle reflex, motor stereotypies	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311135	SSC3-21	PubMed: Connaughton 2020	-	F	-	Italy	-	-	-	-	-	CAKUT	upper urinary tract ureteropelvic junction obstruction (L); mild intellectual disability	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311136	A4730-21	PubMed: Connaughton 2020	-	M	-	Macedonia	-	-	-	-	-	CAKUT	upper urinary tract prenatal hydronephrosis, lower urinary tract bilateral vesicoureteral reflux grade 3, urethral stricture, hydrocele testis; facial dysmorphism (wide interpupillary distance, mild epicanthal folds, long nose with a bulbous tip, farsightedness, low set posteriorly rotated ears with a simple helix and protuberant ears), hyper-extensibility of the joints; speech delay	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311137	A1204-21	PubMed: Connaughton 2020	-	F	-	Macedonia	-	-	-	-	-	CAKUT	upper urinary tract renal agenesis (R); hematocolpos, imperforate hymen	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311138	GM11-21	PubMed: Connaughton 2020	-	M	-	Morocco	-	-	-	-	-	CAKUT	renal ultrasound normal; hypertelorsism, small ears, thick lips, high palate, facial dysmorphsims; obstructive sleep apnoea; developmental delay, mild intellectual disability, seizures, autism, psychosis	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311139	GM17-21	PubMed: Connaughton 2020	-	M	-	-	white	-	-	-	-	CAKUT	mild hypospadias, distal chordee and dorsal hooding; aplasia cutis; acute lymphoblastic leukemia; developmental delay, autism spectrum disorder (mother has attention deficit hyperactivity disorder and learning disability)	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311140	GM19-21	PubMed: Connaughton 2020	-	M	-	Switzerland	-	-	-	-	-	CAKUT	renal ultrasound normal; seizure disorder, MRI normal, low IQ (85)	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311141	GM6-21	PubMed: Connaughton 2020	2-generation family, 2 affected sisters	F	-	-	white	-	-	-	-	CAKUT	renal ultrasound normal; ventricular septal defect, atrial septal defect, patent ductus arteriosus; short stature −2 SD, short 5th digit with abnormal nails, bilateral epicanthi, abnormal palmar crease, upturned nasal tip and severe feeding problems; microcephaly, developmental delay	ZMYM2	ZMYM2	1	2	Johan den Dunnen
00311142	GM6-22	PubMed: Connaughton 2020	sister	F	-	-	white	-	-	-	-	CAKUT	renal ultrasound normal; bilateral epicanthus, abnormal palmar crease; speech delay	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311143	GM18-12	PubMed: Connaughton 2020	2-generation family, 3 affected (mother/daughter/son), daughter	F	-	-	white	-	-	-	-	CAKUT	atrial septal defect; epicanthal folds; attention deficit hyperactivity disorder, autism, behavioral concerns	ZMYM2	ZMYM2	1	3	Johan den Dunnen
00311144	GM18-22	PubMed: Connaughton 2020	brother	M	-	-	white	-	-	-	-	CAKUT	atrial septal defect	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311145	GM18-21	PubMed: Connaughton 2020	mother	F	-	-	white	-	-	-	-	CAKUT	renal ultrasound normal; atrial septal defect	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311146	GM7-21	PubMed: Connaughton 2020	-	F	-	-	white	-	-	-	-	CAKUT	renal ultrasound normal; ECHO heart normal; dysmorphic facial features, short 5th fingers & thumbs, broad big toes, 5th finger clinodactyly, mild short stature (9th percentile); microcephaly, developmental delay, hypotonia, high hyperopia	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311147	GM13-21	PubMed: Connaughton 2020	-	F	-	-	white	-	-	-	-	CAKUT	renal ultrasound normal; ECHO heart normal; short stature (3rd percentile), dysmorphic facial features (wide eyebrows, wide interpupillary and intercanthal distance, epicanthal folds, narrow downslanting palpebral fissures, nose with a wide tip, downturned corners of the mouth, small and low set ears with hypoplastic lobule), 5th finger clinodactyly; microcephaly, developmental delay, speech delay	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311148	GM12-21	PubMed: Connaughton 2020	2-generation family, 2 affected (mother/son), son	M	-	-	white	-	-	-	-	CAKUT	renal ultrasound bilateral malrotated kidneys and the right is low lying; dysmorphic facial features (narrow palpebral fissures, epicanthi and telecanthus, small nose and a grooved single philtrum with mild hypoplastic nasal nares), short, thick fingers, increased range of motion joints; developmental delay, speech delay, hypotonia	ZMYM2	ZMYM2	1	2	Johan den Dunnen
00311149	GM12-12	PubMed: Connaughton 2020	mother	F	-	-	white	-	-	-	-	CAKUT	intellectually disability	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311150	SSC1-21	PubMed: Connaughton 2020	-	M	-	Poland	-	-	-	-	-	CAKUT	upper urinary tract renal agenesis (L); atrial septal defect	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311151	A781-21	PubMed: Connaughton 2020	-	F	-	Macedonia	-	-	-	-	-	CAKUT	upper urinary tract duplex kidney (bilateral), lower urinary tract ureterocele (L); facila dysmorphism; congenital hip dysplasia	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311152	SSC2-21	PubMed: Connaughton 2020	-	M	-	Italy	-	-	-	-	-	CAKUT	upper urinary tract ureteropelvic junction obstruction (L); heart WPW syndrome	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311153	GM16-21	PubMed: Connaughton 2020	-	-	-	-	-	-	-	-	-	CAKUT	excessive femoral anteversion, gait disturbance; alopecia, ectodermal dysplasia; hyponatremia, hypothyroidism, ichthyosis, neutropenia, photophobia, recurrent infections, abnormal thrombosis, thrombocytopenia; global developmental delay, mild intellectual disability, rotary nystagmus, seizures	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311154	GM15-21	PubMed: Connaughton 2020	-	-	-	-	-	-	-	-	-	CAKUT	scoliosis; macrocephaly, hypotonia, developmental delay	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311155	A3928-21	PubMed: Connaughton 2020	-	M	-	India	-	-	-	-	-	CAKUT	upper urinary tract renrenomegaly (bilateral)	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311156	B1410-21	PubMed: Connaughton 2020	2 afected brothers	M	-	Macedonia	-	-	-	-	-	CAKUT	see paper; ...	ZMYM2	ZMYM2	1	2	Johan den Dunnen
00311157	A663-21	PubMed: Connaughton 2020	-	F	-	Kuwait	-	-	-	-	-	CAKUT	upper urinary tract horseshoe kidney, ureteropelvic junction obstruction (L)	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311158	A3135-21	PubMed: Connaughton 2020	-	M	-	Kuwait	-	-	-	-	-	CAKUT	upper urinary tract horseshoe kidney, renal calculi	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311159	B960-21	PubMed: Connaughton 2020	-	F	-	-	white	-	-	-	-	CAKUT	upper urinary tract ureteropelvic junction obstruction (bilateral), renal calculi	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311160	SSC4-21	PubMed: Connaughton 2020	-	M	-	Netherlands	-	-	-	-	-	CAKUT	upper urinary tract renal agenesis (L), lower urinary tract duplex urethra; club hand, hemi-vertebrae, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311161	SSC5-21	PubMed: Connaughton 2020	-	F	-	Macedonia	-	-	-	-	-	CAKUT	upper urinary tract ureteropelvic junction obstruction (R)	ZMYM2	ZMYM2	1	1	Johan den Dunnen
00311162	B1287-21	PubMed: Connaughton 2020	-	M	-	-	-	-	-	-	-	CAKUT	see paper; ...	ZMYM3	ZMYM3	1	1	Johan den Dunnen
00311163	B2323-21	PubMed: Connaughton 2020	-	M	-	-	-	-	-	-	-	CAKUT	see paper; ...	ZMYM3	ZMYM3	1	1	Johan den Dunnen
00315250	-	PubMed: Hwang 2013	Individual A3148-21 in published report	M	-	-	European	-	-	-	-	CAKUT	Non-renal findings and family history not reported; Bilateral renal hypodysplasia, bilateral renal cysts	PAX2	PAX2	1	1	Matthew Bower
00315251	-	PubMed: Hwang 2013	individual A2334-21 in published report	F	-	-	white	-	-	-	-	CAKUT	Other findings and family history not reported; bilateral renal hypodysplasia, bilateral renal cysts; ganglioneuroblastoma	PAX2	PAX2	1	1	Matthew Bower
00315252	-	PubMed: Hwang 2013	individual A1087-21 in published report	-	-	-	Eastern European	-	-	-	-	CAKUT	Other details not published; bilateral ureterovesicle junction obstruction	PAX2	PAX2	1	1	Matthew Bower
00315253	-	PubMed: Hwang 2013	Individual A3872-21 in published report	M	-	India	-	-	-	-	-	CAKUT	Additional details on medical and family history not provided.; Bilateral renal hypodysplasia, bilateral renal cysts	PAX2	PAX2	1	1	Matthew Bower
00315254	-	PubMed: Hwang 2013	Individual A1743-12 in manuscript	F	-	-	European	-	-	-	-	CAKUT	other findings and family history not provided.; renal cysts	PAX2	PAX2	1	1	Matthew Bower
00315255	-	PubMed: Hwang 2013	Individual A1743-21 in publication	F	-	-	European	-	-	-	-	CAKUT	renal cysts	PAX2	PAX2	1	1	Matthew Bower
00315272	-	PubMed: Barua 2014	Individual CKT-11C in published report	-	-	-	-	-	-	-	-	CAKUT	CAKUT; Solitary kidney with hydronephrosis and hydrocele	PAX2	PAX2	1	1	Matthew Bower
00315273	-	PubMed: Barua 2014	Individual CKT34C in published report	-	-	-	-	-	-	-	-	CAKUT	Unilateral UPJO; Ventriculomegaly, facial dysmorphism; seizures; Unilateral UPJO; ventriculomegaly, seizures	PAX2	PAX2	2	1	Matthew Bower
00315274	-	PubMed: Barua 2014	Individual CKT35C in publication	-	-	-	-	-	-	-	-	CAKUT	CAKUT; Unilateral UPJO, Bilateral VUR	PAX2	PAX2	1	1	Matthew Bower
00315275	-	PubMed: Barua 2014	Patient CKT39C in published report	-	-	-	-	-	-	-	-	CAKUT	CAKUT; ventriculomegaly; Solitary kidney; unilateral ventriculomegaly	PAX2	PAX2	1	1	Matthew Bower
00315276	-	PubMed: Barua 2014	Individual CKT46C in published report	-	-	-	-	-	-	-	-	CAKUT	CAKUT; dysmorphic features, hemifacial microsomia; Horseshoe kidney, Small ectopic left kidney	PAX2	PAX2	1	1	Matthew Bower
00315277	-	PubMed: Barua 2014	Individual CKT-89c in publication	-	-	-	-	-	-	-	-	CAKUT	CAKUT; Left UPJO, right VUR	PAX2	PAX2	1	1	Matthew Bower
00315278	-	PubMed: Barua 2014	Individual CKT-54c Note-discrepancy between HG19 contains 3 bases of DNA not present in NM_03990.3 or NM_03987.3	-	-	-	-	-	-	-	-	CAKUT	CAKUT; Unilaeral UVJO/UPJO	PAX2	PAX2	1	1	Matthew Bower
00315283	-	PubMed: Nicolaou 2016	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT; Unilateral renal dysplasia	PAX2	PAX2	1	1	Matthew Bower
00315284	-	PubMed: Nicolaou 2016	-	M	-	-	-	-	-	-	-	CAKUT	unilateral renal dyplasia	PAX2	PAX2	1	1	Matthew Bower
00315285	-	PubMed: Nicolaou 2016	-	M	-	-	-	-	-	-	-	CAKUT	Coloboma; renal dysplasia	PAX2	PAX2	1	1	Matthew Bower
00316076	K1	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	renal hypoplasia	HIC1, MMP9, PDE3B	HIC1, MMP9, PDE3B	3	1	Johan den Dunnen
00316077	K10	PubMed: Heidet 2017	fetus	-	-	France	-	-	-	-	-	CAKUT	bilateral kidney agenesis	SPOCK2	SPOCK2	1	1	Johan den Dunnen
00316078	K100	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	renal dysplasia	BMPR1A	BMPR1A	1	1	Johan den Dunnen
00316079	K101	PubMed: Heidet 2017	affected patient and 1st degree relative (deafness)	-	-	France	-	-	-	-	-	CAKUT	unilateral kidney agenesis; ear tag, external ear canal stenosis	GATA3	GATA3	1	2	Johan den Dunnen

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