All individuals with variants in gene KRT1

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.

86 entries on 1 page. Showing entries 1 - 86.

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
00055397	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055398	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055399	-	-	Family I027, 3 generations, 6 affected	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055400	-	-	Family I002	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055401	-	-	Family 3138	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055402	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055403	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055404	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055405	-	-	-	-	-	-	-	-	-	-	-	NEPPK	keratoderma, non-epidermolytic palmoplantar	1	1	Michel van Geel
00055406	-	-	-	F	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055407	-	-	-	-	-	Netherlands	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055408	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis, cyclic ichthyosis	1	1	Michel van Geel
00055409	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055410	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055411	-	-	-	M	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055412	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis, non-migratory polycylic erythematous psoriasiform plaques	1	1	Michel van Geel
00055413	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055414	-	-	Family, 14 affected	-	-	-	Hispanic	-	-	-	-	Burkitt lymphoma	-	1	14	Michel van Geel
00055415	-	-	-	-	-	United States	-	1y	-	-	-	IHCM	-	1	1	Michel van Geel
00055416	-	-	Three Scottish pedigrees with same ancestryID: Filamin-11402, Filamin-11403, Filamin-09938	-	-	United Kingdom (Great Britain)	-	1y	-	-	-	EPPK	-	1	1	Michel van Geel
00055417	-	-	-	F	-	United Kingdom (Great Britain)	Anglo-Saxon	-	-	-	-	Burkitt lymphoma	-	1	1	Michel van Geel
00055418	-	PubMed: Virtanen 2003	-	F	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055419	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055420	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055421	-	PubMed: Virtanen 2003	-	M	-	(Sweden)	South American	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055422	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055423	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055424	-	-	somatic mosaicism in the mother	-	-	-	-	-	-	-	-	Burkitt lymphoma	-	1	1	Michel van Geel
00055425	-	-	Family 4 generations, 14 affected	-	-	United Kingdom (Great Britain)	British	-	-	-	-	PPKS3	striate palmoplantar keratoderma	1	1	Michel van Geel
00055426	-	-	-	F	-	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055427	-	-	-	-	-	-	-	-	-	-	-	?	palmoplantar keratoderma; fine scaling over the lateral and anterior neck, lower back, external ears, and axillae	1	1	Michel van Geel
00055428	-	-	family, 2 affected	-	-	-	-	-	-	-	-	?	palmoplantar keratoderma	1	2	Michel van Geel
00055429	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055430	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055431	-	-	-	M	no	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, atypical form of EI	1	1	Michel van Geel
00055432	-	-	Family A, 7 affected	-	-	-	-	-	-	-	-	?	palmoplantar keratoderma	1	7	Michel van Geel
00055433	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055434	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055435	-	-	Family 1, 11 affected	-	-	-	-	-	-	-	-	EPPK	-	1	11	Michel van Geel
00055436	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055437	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055438	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055439	-	-	-	M	-	United States	African-American	-	-	-	-	IHCM	-	1	1	Michel van Geel
00055440	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055441	-	-	-	-	-	-	-	-	-	-	-	IHCM	-	1	1	Michel van Geel
00055442	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055443	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055444	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055445	-	-	Family L	-	-	Netherlands	-	-	-	-	-	EPPK	keratoderma, palmoplantar	1	1	Michel van Geel
00055446	-	-	Family J	-	-	Netherlands	-	-	-	-	-	EPPK	keratoderma, palmoplantar	1	1	Michel van Geel
00055447	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Michel van Geel
00055448	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055449	-	-	-	-	-	-	-	-	-	-	-	Burkitt lymphoma	-	1	1	Michel van Geel
00055450	-	-	Family 2	-	-	-	-	18d	-	-	-	Burkitt lymphoma	ather with epidermolytic epidermal naevi	1	1	Michel van Geel
00055451	-	-	Family 1	M	-	-	-	11d	-	-	-	Burkitt lymphoma	mother with epidermolytic epidermal naevi	1	1	Michel van Geel
00055452	-	-	-	M	-	Kazakhstan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blisters, erythroderma at birth	1	1	Michel van Geel
00055453	-	-	-	-	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, epidermal naevus with epidermolytic hyperkeratosis	1	1	Michel van Geel
00055454	-	-	-	-	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	1	Michel van Geel
00055455	-	-	Family 2	-	-	-	-	-	-	-	-	NEPPK	keratoderma, non-epidermolytic palmoplantar	1	1	Michel van Geel
00055456	-	-	Family 1	-	-	-	-	-	-	-	-	NEPPK	keratoderma, non-epidermolytic palmoplantar	1	1	Michel van Geel
00055457	-	-	Family 3	-	-	-	-	-	-	-	-	NEPPK	keratoderma, non-epidermolytic palmoplantar	1	1	Michel van Geel
00055458	-	-	-	-	-	China	-	-	-	-	-	NEPPK	keratoderma, non-epidermolytic palmoplantar	1	1	Michel van Geel
00055459	-	-	Family 1 related to family 2, 8 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, diffuse PPK	1	8	Michel van Geel
00055824	-	-	Family B	-	-	-	-	-	-	-	-	?	palmoplantar keratoderma	1	2	Johan den Dunnen
00055832	-	-	Family 2, 2 affected	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	1	2	Johan den Dunnen
00055846	-	-	Family 2 related to family 1, 6 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Diffuse PPK	1	6	Johan den Dunnen
00055847	-	-	Family 3, 9 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Diffuse PPK	1	9	Johan den Dunnen
00055848	-	-	patient 1	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering and erythroderma at birth	1	1	Johan den Dunnen
00055849	-	-	-	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	1	Johan den Dunnen
00055850	-	-	patient 3	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	1	Johan den Dunnen
00055851	-	-	-	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, keratosis in skin folds	1	1	Johan den Dunnen
00055852	-	-	family 5	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	1	Johan den Dunnen
00055853	-	-	family 6	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	1	Johan den Dunnen
00055854	-	-	family 7	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, EI naevus mother	1	1	Johan den Dunnen
00055855	-	-	patient 8	-	-	Portugal	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	1	Johan den Dunnen
00055856	-	-	patient 9	-	-	Lebanon	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, severe PPK, blistering arms	1	1	Johan den Dunnen
00055857	-	-	-	M	-	Japan	-	-	-	-	-	IHCM	collodion-like baby	1	1	Johan den Dunnen
00055858	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Severe PPK	1	1	Johan den Dunnen
00055859	-	-	-	M	-	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, severe PPK	1	1	Johan den Dunnen
00055860	-	-	family, 3 affected	M	-	(Korea, South (Republic))	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	1	3	Johan den Dunnen
00055861	-	-	family, 2 affected	F	-	Colombia	-	-	-	-	-	IHCM	-	1	2	Johan den Dunnen
00208752	30452289-Fam	PubMed: Tang 2018	4-generation family, 13 affected (9F, 4M)	F;M	no	China	-	-	-	-	-	NEPPK	see paper; ...	1	13	Johan den Dunnen
00290753	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	29	Mohammed Faruq
00290754	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	263	Mohammed Faruq
00304370	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	11	Mohammed Faruq
00320067	CCM1	-	-	M	?	Italy	-	-	-	-	-	CCM1	-	1	1	Carmela Fusco

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Global Variome shared LOVD

KRT1 (keratin 1)