Division of Biology and Genetics (University of Brescia)
General information
Division of Biology and Genetics
University of Brescia
Viale Europa 11
Brescia
Lombardia
Italy - 25127
https://www.unibs.it/
Organization ID: 507568
University of Brescia
Viale Europa 11
Brescia
Lombardia
Italy - 25127
https://www.unibs.it/
Organization ID: 507568
Personnel
- valeria cinquina, Staff
Phone: 00390303717261
Email: valeria.cinquina1@unibs.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
Gene | Submissions | Last Updated |
---|---|---|
AEBP1 | 1 | Jan 28, 2021 |
ATP6V0A2 | 2 | Feb 4, 2021 |
B3GALT6 | 2 | Feb 4, 2021 |
B3GAT3 | 2 | Sep 24, 2020 |
B4GALT7 | 1 | Sep 24, 2020 |
COL5A1 | 1 | Sep 24, 2020 |
GGCX | 2 | Jan 28, 2021 |
LOC126859827 | 1 | Feb 16, 2021 |
LTBP4 | 1 | Sep 24, 2020 |
MAP3K7 | 1 | Aug 7, 2020 |
NBAS | 1 | May 21, 2020 |
PURA | 1 | Jun 23, 2020 |
PYCR1 | 2 | Feb 4, 2021 |
TAB2 | 1 | Feb 16, 2021 |
TNXB | 1 | Jan 29, 2021 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Autosomal recessive cutis laxa type 2B | 2 | Feb 4, 2021 |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 2 | Jan 28, 2021 |
Cardiospondylocarpofacial syndrome | 1 | Aug 7, 2020 |
Congenital heart defects, multiple types, 2 | 1 | Feb 16, 2021 |
Cutis laxa with osteodystrophy | 2 | Feb 4, 2021 |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | Sep 24, 2020 |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Jan 29, 2021 |
Ehlers-Danlos syndrome progeroid type | 1 | Sep 24, 2020 |
Ehlers-Danlos syndrome, classic type | 1 | Sep 24, 2020 |
Ehlers-Danlos syndrome, classic type, 1 | 1 | Jan 28, 2021 |
Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 2 | Feb 4, 2021 |
Infantile liver failure syndrome 2 | 1 | May 21, 2020 |
Larsen-like syndrome, B3GAT3 type | 2 | Sep 24, 2020 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Jun 23, 2020 |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | May 21, 2020 |