All individuals with variants in gene SPRED1

285 entries on 3 pages. Showing entries 1 - 100.
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00037166 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037167 - - - - - Germany - - - - - ? family history: father and his brothers and sisters are also affected; father: Lipome, no hearing problems 1 1 Andreas Laner
00037168 - - - - - Germany - - - - - ? no signs of Legius syndrome, no cafe au lait spots (-HP:0000957) 1 1 Andreas Laner
00037169 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037170 - - - - - Germany - - - - - ? plexiformes Neurofibrom, suspected bone tumour; daughters: substdermal lumps 1 1 Andreas Laner
00037171 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00205875 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral inguinal freckling / acrocyanosis 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 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 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 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 1 1 Ludwine Messiaen
00205880 - Pasmant, Paris - M - - - - - - - LGSS >6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development 1 1 Ludwine Messiaen
00205881 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown 1 1 Ludwine Messiaen
00205882 - Brems et al, 2012 - M - - - - - - - cafe-au-lait spots, multiple >6 CALMs 1 1 Ludwine Messiaen
00205883 - Messiaen UAB, unpublished also carries NF1 mutation c.3708G>A; also found in her brother who has NO signs F - - - - - - - NF1 >6 CALMs / BI&A / 100-500 cNFs / hist confirmed subdermal NFs / plexiform neurofibroma R leg and R foot / asymptomatic optic glioma by MRI 1 1 Ludwine Messiaen
00205884 - Messiaen UAB, unpublished - F - - - - - - - cafe-au-lait spots, multiple 8 typical CALMs / numerous smaller macules and R axillary freckling; father reportedly has freckling 1 1 Ludwine Messiaen
00205885 - Messiaen UAB, unpublished - F - - - - - - - ? no CALMs / diffuse histological confirmed gastric neurofibromas / bone cysts on wrist and scoliosis / segmental NF is possible / unknown family history. NF1 testing on blood negative 1 1 Ludwine Messiaen
00205886 - Eva Trevisson, University of Padova, Italy - F no Italy - - - - - cafe-au-lait spots, multiple > 6 CALS 1 1 Eva Trevisson
00205887 - Brems et al, 2012 - M - - - - - - - ? - 1 1 Ludwine Messiaen
00205888 - Messiaen UAB, unpublished - M - - white - - - - ? 2 CALMs R upper quadrant / 7 cm hyperpigmented region on R neck / 4-5 freckles R neck / R axillary freckling / abnormal development. Segmental NF is possible. 1 1 Ludwine Messiaen
00205889 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral axillary freckling / familial 1 1 Ludwine Messiaen
00205890 - Messiaen UAB, unpublished - M - - - - - - - ? 6 CAL-spots predominantly on L side / ? asymptomatic paraspinal nodules by MRI / and abnormal dev. with abnormal behaviors 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 1 1 Ludwine Messiaen
00205892 - Van Minkelen, Erasmus U, Rotterdam - M - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205893 - Messiaen UAB, unpublished - M - - - - - - - LGSS 20typical CALMs / possible Noonan phenotype with coarse features and short stature 1 1 Ludwine Messiaen
00205894 - PubMed: Messiaen 2009 - - - - - - - - - ? - 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 1 1 Ludwine Messiaen
00205896 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - 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 1 1 Ludwine Messiaen
00205898 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / R inguinal freckling / hypertelorism 1 1 Ludwine Messiaen
00205899 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history 1 1 Ludwine Messiaen
00205900 - PubMed: Spencer 2011 - F - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205901 - Wimmer, MUI - F - - - - - - - LGSS multiple CALMs and macrocephaly 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 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 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 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 1 1 Ludwine Messiaen
00205907 - PubMed: Messiaen 2009 - M - - - - - - - LGSS >6 CALMs / 2 freckles in R axilla 1 1 Ludwine Messiaen
00205908 - PubMed: Muram-Zborovski 2010 - M - - - - - - - LGSS 10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention 1 1 Ludwine Messiaen
00205909 - PubMed: Denayer 2011a - F - - - - - - - LGSS >5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism 1 1 Ludwine Messiaen
00205910 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / freckling R neck / learning disability 1 1 Ludwine Messiaen
00205911 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / bilateral inguinal and axillary freckling 1 1 Ludwine Messiaen
00205912 - Brems et al, 2012 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205913 - Brems et al, 2012 - F - - - - - - - LGSS >6 CALMs / freckling 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 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 2 1 Ludwine Messiaen
00205916 - PubMed: Messiaen 2009 - F - - - - - - - LGSS 14 CALM / no freckling / hyperactive 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 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 1 1 Ludwine Messiaen
00205919 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / adopted 1 1 Ludwine Messiaen
00205920 - PubMed: Spencer 2011 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205921 - PubMed: Spencer 2011 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205922 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / left inguinal freckling 1 1 Ludwine Messiaen
00205923 - PubMed: Pasmant 2014 - - - - - - - - - LGSS > 5 CALs 2 1 Beatrice Parfait
00205924 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / familial 1 1 Ludwine Messiaen
00205925 - PubMed: Spencer 2011 - F - - - - - - - ? >6 CALMs / bilateral axillary freckling / congenital left ventricular aneurysm 1 1 Ludwine Messiaen
00205926 - PubMed: Spencer 2011 - M - - - - - - - ? >6 typical CALMs / bilateral axillary freckling / 2-6 possible neurofibromas and comprehensive NF1 testing negative; daughter reportedly also has NF1 and NF1 testing negative 1 1 Ludwine Messiaen
00205927 - PubMed: Spencer 2011 - F - - - - - - - LGSS >6 CALMs / bilateral axillary and inguinal freckling 1 1 Ludwine Messiaen
00205928 - PubMed: Spencer 2011 - - - - - - - - - ? - 1 1 Ludwine Messiaen
00205929 - Messiaen UAB, unpublished - F - - - - - - - ? >6 typical CALMs / 1L axillary freckle / spor; not found in mom who has 1 hyperpigmented macule on L hip with freckling within the margins / and lipoma on L shoulder; dad is 38y with 2 hypopigmented areas on arms and hypertension carries mutation 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 1 1 Ludwine Messiaen
00205931 - PubMed: Denayer 2011a - M - - - - - - - LGSS >5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears 1 1 Ludwine Messiaen
00205932 - PubMed: Denayer 2011a - M - - - - - - - LGSS multiple CALMs 1 1 Ludwine Messiaen
00205933 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH 1 1 Ludwine Messiaen
00205934 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / bilateral axillary freckling 1 1 Ludwine Messiaen
00205935 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CAL-spots 1 1 Ludwine Messiaen
00205936 - PubMed: Spencer 2011 carries a pathogenic NF2 mutation - - India Indian - - - - NF2 6-10 CAL-spots / spinal tumors and bilateral vestibular schwannomas / NF1 testing negative 1 1 Ludwine Messiaen
00205937 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs 1 1 Ludwine Messiaen
00205938 - Messiaen UAB, unpublished - F - - - - - - - cafe-au-lait spots, multiple >6 CALMs 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 1 1 Ludwine Messiaen
00205940 - Brems et al, 2012 - - - - - - - - - LGSS - 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) 1 1 Ludwine Messiaen
00205942 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs / BI&A / familial 1 1 Ludwine Messiaen
00205943 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs 1 1 Ludwine Messiaen
00205944 - PubMed: Brems 2007 - - - - - - - - - LGSS >6 CALM / no freckling 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 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 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 1 1 Ludwine Messiaen
00205948 - Messiaen UAB, unpublished - M - - - - - - - LGSS >6 CALMs / no freckling / normal development 1 1 Ludwine Messiaen
00205949 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALMs / abnormal development / learning difficulties 1 1 Ludwine Messiaen
00205950 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 typical CALMs / BI&A / familial 1 1 Ludwine Messiaen
00205951 - Wimmer, MUI - M - - - - - - - LGSS multiple CALMs 1 1 Ludwine Messiaen
00205952 - Messiaen UAB, unpublished - M - - - - - - - ? >6 typical CAL-spots / history of ataxia and hypotonia causing gait abnormality. Sporadic case 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 1 1 Ludwine Messiaen
00205954 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205955 - Messiaen UAB, unpublished - M - - - - - - - LGSS 6 irregular CALMs and BI&A freckling / familial 1 1 Ludwine Messiaen
00205956 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs 1 1 Ludwine Messiaen
00205957 - PubMed: Messiaen 2009 - M - - - - - - - LGSS >15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum 1 1 Ludwine Messiaen
00205958 - Pasmant, Paris - M - - - - - - - LGSS numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs 1 1 Ludwine Messiaen
00205959 - Brems et al, 2012 - M - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205960 - Messiaen UAB, unpublished also carries NF1 mutation c.5944-2A>G . Both inherited from affected parent! Not clear if SPRED1 makes any contribution. M - - - - - - - NF1 8 CALMs and 2 neurofibromas 1 1 Ludwine Messiaen
00205961 - PubMed: Messiaen 2009 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
00205963 - Messiaen UAB, unpublished - M - - - - - - - LGSS also found in the proband's mother with 1 hyperpigmented region on the abdomen 1 1 Ludwine Messiaen
00205964 - Messiaen UAB, unpublished - F - - - - - - - LGSS 7 CALMs family history unknwon 1 1 Ludwine Messiaen
00205965 - Brems et al, 2012 - F - - - - - - - LGSS - 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 1 1 Ludwine Messiaen
00205967 - PubMed: Denayer 2011a - F - - - - - - - LGSS >5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall 1 1 Ludwine Messiaen
00205968 - PubMed: Spencer 2011 - M - - - - - - - LGSS >6 CALMs / freckling on L side of neck 1 1 Ludwine Messiaen
00205969 - Messiaen UAB, unpublished - F - - - - - - - LGSS >6 CALs / L inguinal and axillary freckling. sporadic 1 1 Ludwine Messiaen
00205970 - PubMed: Spencer 2011 - - - - - - - - - LGSS - 1 1 Ludwine Messiaen
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