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.

 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
|
00205875 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral inguinal freckling / acrocyanosis |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205876 |
- |
PubMed: Spencer 2011 |
phenotype of affected parent and sibling of the proband described in {PMID21548021:Spencer 2011} |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
6 CALM / posteriorly rotated ears / ptosis left eye / no freckling / normal speech and motor development |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205877 |
- |
PubMed: Pasmant 2009 |
phenotype of affected parent and 2 siblings of the proband described in PubMed: Pasmant 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
20 CALM / bilateral axillary and inguinal freckling / learning disability: dyslexia / dysgraphia / attention deficit / cephalalgia |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205878 |
- |
PubMed: Messiaen 2009 |
phenotype of affected parent of the proband described in PubMed: Messiaen 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / no freckling / hyperactive |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205879 |
- |
PubMed: Messiaen 2009 |
phenotype of affected parent of the proband described in PubMed: Messiaen 2009 |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / axillary and inguinal freckling / clinodactyly 5th finger |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205880 |
- |
Pasmant, Paris |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205881 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205889 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral axillary freckling / familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205891 |
- |
PubMed: Spencer 2011 |
phenotype of affected parent of the proband described in {PMID21548021:Spencer 2011} |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / bilateral axillary and inguinal freckling / ADHD |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205892 |
- |
Van Minkelen, Erasmus U, Rotterdam |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205893 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
20typical CALMs / possible Noonan phenotype with coarse features and short stature |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205895 |
- |
PubMed: Pasmant 2009 |
phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
13 CALM / no freckling / monoblastic acute leukemia / learning disability |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205896 |
- |
PubMed: Messiaen 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205897 |
- |
PubMed: Spurlock 2009 |
phenotype of affected child of proband described in PubMed: Spurlock 2009 |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
CALM present / punctate dots in right groin |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205898 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / R inguinal freckling / hypertelorism |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205899 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205900 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205901 |
- |
Wimmer, MUI |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
multiple CALMs and macrocephaly |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205902 |
- |
PubMed: Pasmant 2014 |
phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALs |
SPRED1 |
SPRED1 |
1 |
1 |
Beatrice Parfait |
00205903 |
- |
PubMed: Pasmant 2014 |
phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALs and Learning disabilities |
SPRED1 |
SPRED1 |
1 |
1 |
Beatrice Parfait |
00205904 |
- |
PubMed: Pasmant 2014 |
phenotype of affected parent and 1 sibling of the proband described in PubMed: Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
> 5 CALs |
SPRED1 |
SPRED1 |
1 |
1 |
Beatrice Parfait |
00205906 |
- |
PubMed: Messiaen 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
22 CALM / thoracic freckling / speech delay / meatal stenosis / hypertelorism / mild hearing loss Lear / low posterior hairline / mild pterygium colli / pectus carinatum/excavatum / motor and language delay / ADHD |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205907 |
- |
PubMed: Messiaen 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / 2 freckles in R axilla |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205908 |
- |
PubMed: Muram-Zborovski 2010 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205909 |
- |
PubMed: Denayer 2011a |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205910 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / freckling R neck / learning disability |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205911 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral inguinal and axillary freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205912 |
- |
Brems et al, 2012 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205913 |
- |
Brems et al, 2012 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205914 |
- |
PubMed: Messiaen 2009 |
unknown (father unavailable) |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
14 CALM / 1 CALM in left axilla / hyperactive / mild pectus excavatum / mild retrognatia / simple ears |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205915 |
- |
PubMed: Brems 2007 |
phenotype of 6 affected relatives is debribed in PubMed: Brems 2007 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
no CALM / no freckling / multiple lipomas |
SPRED1 |
SPRED1 |
2 |
1 |
Ludwine Messiaen |
00205916 |
- |
PubMed: Messiaen 2009 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
14 CALM / no freckling / hyperactive |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205917 |
- |
PubMed: Messiaen 2009 |
phenotype of 2 affected siblings of the proband described in PubMed: Messiaen 2009 |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / bilateral axillary freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205918 |
- |
PubMed: Denayer 2011a |
phenotype of affected child of the proband described in {PMID21089071:Denayer 2011a} |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALM / no freckling / generalized epilepsy since age 39-y / Parkinson disease since age 45-y |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205919 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / adopted |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205920 |
- |
PubMed: Spencer 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205921 |
- |
PubMed: Spencer 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205922 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / left inguinal freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205923 |
- |
PubMed: Pasmant 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
> 5 CALs |
SPRED1 |
SPRED1 |
2 |
1 |
Beatrice Parfait |
00205924 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205927 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral axillary and inguinal freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205930 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
8 CALMs / mild thoracic scoliosis / abnormal development with heart murmur / possible Noonan phenotype with short stature and midface hypoplasia. Familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205931 |
- |
PubMed: Denayer 2011a |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205932 |
- |
PubMed: Denayer 2011a |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
multiple CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205933 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205934 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral axillary freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205935 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CAL-spots |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205937 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205939 |
- |
PubMed: Spurlock 2009 |
phenotype of affected son and 2 grandchildren of proband described in PubMed: Spurlock 2009 dbSNP: rs121434318 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
CALM present / freckling present / macrocephaly |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205940 |
- |
Brems et al, 2012 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205941 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 typical CALMsmild bilateral inguinal freckling / minimal bil ax freckling / 1 subcutaneous lump on R torso / LD (psychiatric disease) |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205942 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 typical CALMs / BI&A / familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205943 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205944 |
- |
PubMed: Brems 2007 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / no freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205945 |
- |
PubMed: Pasmant 2009 |
; phenotype of 4 affected first- and second-degree relatives of proband described in PubMed: Pasmant 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
11 CALM / bilateral axillary and inguinal freckling / cephalgia |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205946 |
- |
PubMed: Denayer 2011a |
phenotype of affected son of proband described in {PMID21089071:Denayer 2011a} |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALM / no freckling / 5 spontaneous abortions / 1 still birth at 6m pregnancy / unilateral postaxial polydactyly foot |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205947 |
- |
PubMed: Denayer 2011a |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALM / axillary and inguinal freckling / hypertelorism / pectus excavatum / delayed motor milestones / non-verbal learning disorder |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205948 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / no freckling / normal development |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205949 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / abnormal development / learning difficulties |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205950 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 typical CALMs / BI&A / familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205951 |
- |
Wimmer, MUI |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
multiple CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205953 |
- |
PubMed: Spurlock 2009 |
phenotype of affected child of proband described in PubMed: Spurlock 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
CALM present / no freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205954 |
- |
PubMed: Messiaen 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205955 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
6 irregular CALMs and BI&A freckling / familial |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205956 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205957 |
- |
PubMed: Messiaen 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205958 |
- |
Pasmant, Paris |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205959 |
- |
Brems et al, 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205961 |
- |
PubMed: Messiaen 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205963 |
- |
Messiaen UAB, unpublished |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
also found in the proband's mother with 1 hyperpigmented region on the abdomen |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205964 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
7 CALMs family history unknwon |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205965 |
- |
Brems et al, 2012 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205966 |
- |
Pasmant, Paris |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205967 |
- |
PubMed: Denayer 2011a |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205968 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / freckling on L side of neck |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205969 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALs / L inguinal and axillary freckling. sporadic |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205970 |
- |
PubMed: Spencer 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205971 |
- |
Brems et al, 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205972 |
- |
PubMed: Messiaen 2009 |
phenotype of affected parent of the proband described in PubMed: Messiaen 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / bilateral inguinal freckling / 2-3 freckles in left axilla / large right temporal venous anomaly in brain / progressive dystonia of unexplained etiology |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205973 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / mother with multiple CALMs also carries this mutation |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205974 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / right inguinal freckling. |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205975 |
- |
PubMed: Messiaen 2009 |
phenotype of 2 affected relatives of the proband described in PubMed: Messiaen 2009 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM / bilateral axillary and inguinal freckling / freckling right neck / macrocephaly |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205976 |
- |
PubMed: Messiaen 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205977 |
- |
PubMed: Denayer 2011a |
phenotype of affected daughter and granddaughter of the proband described in {PMID21089071:Denayer 2011a} |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
no CALM / no freckling / low implanted ears / prooptosis / coarse facial features |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205978 |
- |
Brems et al, 2012 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205979 |
- |
PubMed: Spencer 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral inguinal and axillary freckling / scoliosis |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205980 |
- |
PubMed: Pasmant 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
> 5 CALs and Lentigines |
SPRED1 |
SPRED1 |
1 |
1 |
Beatrice Parfait |
00205981 |
- |
Messiaen UAB, unpublished |
- |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
multiple CALMs / ADD / area of telangiectasia over right thigh and LD / FH?? |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205982 |
- |
Messiaen UAB, unpublished |
also carries p.Ile116Asn |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / fading mongolian spot; 35-yo father >6 CALMs and bilateral inguinal freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205983 |
- |
PubMed: Brems 2007 |
phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALM, mild freckling, macrocephaly, 3 lipomas |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205984 |
- |
PubMed: Brems 2007 |
phenotype of 1 affected child of the proband described in PubMed: Brems 2007 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
39-y, 7 CALM, 1 freckle, Noonan-like face, loose integument, 2 lipomas |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205985 |
- |
PubMed: Messiaen 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205986 |
- |
PubMed: Denayer 2011a |
phenotype of 3 affected relatives of the proband described in {PMID21089071:Denayer 2011a} |
F |
- |
- |
- |
- |
- |
- |
- |
LGSS |
39-y, >5 CALM, no freckling, mild synophris, normal development, migraine, some skintags in neck and face |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205987 |
- |
PubMed: Laycock-van Spyk 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
several small CALM / mild axillary freckling |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205988 |
- |
Brems et al, 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205989 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / 1 axillary freckle |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205990 |
- |
PubMed: Spencer 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs / bilateral inguinal and axillary freckling / mother CALMs only |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205991 |
- |
Messiaen, UAB |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
>6 CALMs |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205992 |
- |
Van Minkelen, Erasmus U, Rotterdam |
phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 |
M |
- |
- |
- |
- |
- |
- |
- |
LGSS |
- |
SPRED1 |
SPRED1 |
1 |
1 |
Ludwine Messiaen |
00205993 |
- |
PubMed: Pasmant 2014 |
phenotype of 20 affected relatives of the proband described in PubMed: Brems 2007 |
- |
- |
- |
- |
- |
- |
- |
- |
LGSS |
> 5 CALs and Developmental delay |
SPRED1 |
SPRED1 |
1 |
1 |
Beatrice Parfait |