
 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
|
00105902 |
27380894-FamIIAPat1/II |
PubMed: Lindert 2016, Journal: Lindert 2016 |
3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II |
M |
no |
Germany |
German |
- |
- |
- |
- |
OI |
osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature |
MBTPS2 |
CCDC120, COL1A1, MBTPS2 |
3 |
2 |
Cecilia Giunta |
00105905 |
27380894-FamIIAPat2/II |
PubMed: Lindert 2016, Journal: Lindert 2016 |
Pat2/II |
M |
no |
Germany |
German |
68y |
- |
- |
- |
OI |
osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum |
MBTPS2 |
MBTPS2 |
1 |
1 |
Cecilia Giunta |
00105906 |
27380894-Fam1PatV7 |
PubMed: Lindert 2016, Journal: Lindert 2016 |
5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 |
M |
no |
Thailand |
AsianO |
- |
- |
- |
- |
OI |
osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia |
COL1A2, MBTPS2 |
COL1A2, MBTPS2, SUPT20HL1 |
3 |
12 |
Cecilia Giunta |
00111702 |
- |
- |
- |
F |
? |
(France) |
- |
- |
- |
- |
- |
OI |
severe myopia, genu valgum, cleft lip |
COL2A1 |
- |
- |
1 |
Mouna Barat-Houari |
00132773 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
OI |
- |
COL1A2 |
COL1A2 |
1 |
1 |
Gemeinschaftspraxis für Humangenetik Dresden |
00173905 |
? |
- |
- |
- |
- |
Argentina |
- |
- |
- |
Marsá Silvana (smarsa @ gmail.com) FQByF UNSL |
- |
OI |
no family history, no tumors |
COL1A1 |
COL1A1 |
1 |
1 |
CEMIC - Genotyping - Angela Solano |
00234068 |
AN_004301 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234069 |
AN_004302 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234070 |
AN_004303 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234071 |
AN_004304 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234072 |
AN_004305 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); fractures at birth; triangular face |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234073 |
AN_004306 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 146cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Maligned spine; Beighton 5/9; mild bruising |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234074 |
AN_004307 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 2 fractures |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234075 |
AN_004308 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Diffuse osteopenia; Joint laxity |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234076 |
AN_004309 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234077 |
AN_004310 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Finger and Forearm deformity; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234078 |
AN_004311 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
2 fractures |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234079 |
AN_004312 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234080 |
AN_004313 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture; triangular face, frontal bossing; Macrocephaly |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234081 |
AN_004314 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); Easy bruising, loose joints, scoliosis |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234082 |
AN_004315 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234083 |
AN_004316 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) (14) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234084 |
AN_004317 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234085 |
AN_004318 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234086 |
AN_004319 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234087 |
AN_004320 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234088 |
AN_004321 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234089 |
AN_004322 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234090 |
AN_004323 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
dark blue sclera (HP:0000591); 1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234091 |
AN_004324 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
dark blue sclera (HP:0000591); multiple fractures (HP:0002757); Hypermobile thumbs |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234092 |
AN_004325 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture; Hypermobility of some joints (hands and wrist); |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234093 |
AN_004326 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234094 |
AN_004327 |
PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Joint laxity; was on intravenous bisphosphonate s |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234095 |
AN_004543 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757); Prominent large and small joint hypermobility; exaggerated lordosis of back; was receiving bisphosphonate treatment as part of Novartis bisphosphonate intervention study but discontinued due to needle phobia |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234096 |
AN_004328 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 66cm at 8m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234097 |
AN_004329 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234098 |
AN_004331 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234099 |
AN_004333 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234100 |
AN_004335 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Wormian Bones |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234101 |
AN_004544 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234102 |
AN_004339 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234103 |
AN_004344 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
2 fractures |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234104 |
AN_004345 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 2 fractures |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234105 |
AN_004346 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 50th%; blue sclerae (HP:000592) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234106 |
AN_004347 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234107 |
AN_004348 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 152cm; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703); Severe aortic regurgitation w/out BAV or aortic stenosis, ascending aortic dilatation, possible endocarditis; thoracolumbar scoliosis |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234108 |
COL1A1_00364 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 149cm; multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234109 |
AN_004354 |
PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234110 |
AN_004355 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight >3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); Curving of long bones; Decreased movement of the extremities |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234111 |
NA |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); bowing long bones; hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Scoliosis, bilateral femur and tibia rodding |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234112 |
AN_004358 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234113 |
AN_004359 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); fractures at birth |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234114 |
AN_004360 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 162cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (50+); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234115 |
AN_004361 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); no dentinogenesis imperfecta (-HP:0000703) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234116 |
AN_004362 |
PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Forearm deformity; hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234117 |
AN_004363 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) (20+); bowed femurs |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234118 |
AN_004364 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234119 |
AN_004365 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture; Joint hypermobility |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234120 |
AN_004366 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234121 |
AN_004367 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
grey sclera (HP:0000591); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234122 |
AN_004368 |
PubMed: Schleit 2015, Journal: Schleit 2015, Willing et al 1994 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) (70+); Scoliosis |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234123 |
AN_004369 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); no hearing loss (-HP:0000365); dentinogenesis imperfecta (HP:0000703); Scoliosis; long, hyperextensible fingers; about 10 nevi in face and thorax |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234124 |
AN_004370 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234125 |
AN_004371 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234126 |
AN_004372 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234127 |
AN_004373 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234128 |
AN_004374 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234129 |
AN_004375 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 155cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234130 |
AN_004376 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (7); Frontal bowing |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234131 |
AN_004377 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234132 |
AN_004378 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
fractures at birth; Contralateral femur bowing |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234133 |
AN_004379 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (8) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234134 |
AN_004380 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234135 |
AN_004381 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); Possible tibial bowing |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234136 |
AN_004382 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234137 |
AN_004384 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234138 |
AN_004385 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); Flexible joints |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234139 |
AN_004386 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (12) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234140 |
AN_004387 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234141 |
AN_004388 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234142 |
AN_004389 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue/grey sclera (HP:0000591); 1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234143 |
AN_004390 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234144 |
AN_004391 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (32); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234145 |
AN_004393 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
- |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234146 |
AN_004394 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
Height/weight 50-75th%; blue sclerae (HP:000592); 2 fractures; Large head (OFC 97%), mother and other relatives with large heads |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234147 |
AN_004395 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); Easy bruising, joint hypermobility, scoliosis |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234148 |
AN_004396 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
multiple fractures (HP:0002757) (11); Deformity of elbows; Flat feet, cannot walk on tiptoes |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234149 |
AN_004397 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
no family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234150 |
AN_004398 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234151 |
AN_004399 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234152 |
AN_004400 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 1 fracture |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234153 |
AN_004401 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234154 |
AN_004402 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703); Followed for "hip clicks" - no intervention |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234155 |
AN_004404 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234156 |
AN_004405 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234157 |
AN_004406 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
fractures at birth; rodding femur rods – bilateral L. tibia rod |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234158 |
AN_004407 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); multiple fractures (HP:0002757) |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234159 |
AN_004408 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
fractures at birth |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234160 |
AN_004409 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; Mild joint hyperextensibilit y |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |
00234161 |
AN_004410 |
PubMed: Schleit 2015, Journal: Schleit 2015 |
family history |
- |
- |
United States |
- |
- |
- |
- |
- |
OI |
blue sclerae (HP:000592); 2 fractures |
COL1A1 |
COL1A1 |
1 |
1 |
Global Variome, with Curator vacancy |