Autoinflammatory diseases unit (CHU de Montpellier), UMAI
General information
Autoinflammatory diseases unit, UMAI
CHU de Montpellier
371 Avenue du Doyen Gaston Giraud
Montpellier
Languedoc-Roussillon
France - 34090
https://umai-montpellier.fr/
Organization ID: 507272
CHU de Montpellier
371 Avenue du Doyen Gaston Giraud
Montpellier
Languedoc-Roussillon
France - 34090
https://umai-montpellier.fr/
Organization ID: 507272
Personnel
- Mouna BARAT, Lab Associate Director
Phone: +33467336152
Email: mouna-barat@chu-montpellier.fr - Nathalie RUIZ, Contact
Phone: +33467335941
Email: nathalie.ruiz-pallares@inserm.fr
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 202
Gene
Gene | Submissions | Last Updated |
---|---|---|
ANKRD11 | 21 | Jul 22, 2020 |
ARID1B | 4 | Jul 22, 2020 |
CHD7 | 7 | Jul 22, 2020 |
CREBBP | 3 | Jul 22, 2020 |
DUSP29 | 1 | Jul 22, 2020 |
DVL1 | 1 | Jul 22, 2020 |
EFTUD2 | 1 | Jul 22, 2020 |
EHMT1 | 1 | Jul 22, 2020 |
EP300 | 1 | Jul 22, 2020 |
IRF6 | 3 | Jul 22, 2020 |
KANSL1 | 1 | Jul 22, 2020 |
KAT6B | 1 | Jul 22, 2020 |
KDM5C | 1 | Jul 22, 2020 |
KDM6A | 13 | Jul 22, 2020 |
KMT2A | 3 | Jul 22, 2020 |
KMT2D | 115 | Jul 22, 2020 |
LOC115308161 | 1 | Jul 22, 2020 |
LOC121740638 | 2 | Jul 22, 2020 |
LOC126861520 | 3 | Jul 22, 2020 |
LOC129929114 | 1 | Jul 22, 2020 |
MASP1 | 1 | Jul 22, 2020 |
MED13L | 2 | Jul 22, 2020 |
MID1 | 1 | Jul 22, 2020 |
NIPBL | 1 | Jul 22, 2020 |
PHF6 | 1 | Jul 22, 2020 |
SATB2 | 1 | Jul 22, 2020 |
SETD5 | 5 | Jul 22, 2020 |
SMARCA2 | 3 | Jul 22, 2020 |
SMARCA4 | 1 | Jul 22, 2020 |
SNRPB | 2 | Jul 22, 2020 |
TBX1 | 1 | Jul 22, 2020 |
TCOF1 | 3 | Jul 22, 2020 |
TFAP2A | 4 | Jul 22, 2020 |
TFAP2A-AS2 | 2 | Jul 22, 2020 |
TTC36-AS1 | 1 | Jul 22, 2020 |
Condition
Name | Submissions | Last Updated |
---|---|---|
3MC syndrome | 1 | Jul 22, 2020 |
3MC syndrome 1 | 1 | Jul 22, 2020 |
Autosomal dominant Robinow syndrome 2 | 1 | Jul 22, 2020 |
Branchiooculofacial syndrome | 3 | Jul 22, 2020 |
CHARGE association | 4 | Jul 22, 2020 |
Cerebro-costo-mandibular syndrome | 1 | Jul 22, 2020 |
Chromatinopathy | 8 | Jul 22, 2020 |
Cleft lip | 1 | Jul 22, 2020 |
Cleft palate | 3 | Jul 22, 2020 |
Coffin-Siris syndrome 1 | 2 | Jul 22, 2020 |
Cornelia de Lange syndrome 1 | 1 | Jul 22, 2020 |
Cornelia de Lange-like syndrome | 1 | Jul 22, 2020 |
Hirsutism | 5 | Jul 22, 2020 |
Intellectual disability | 7 | Jul 22, 2020 |
Isolated Pierre-Robin syndrome | 1 | Jul 22, 2020 |
KBG syndrome | 23 | Jul 22, 2020 |
Kabuki syndrome 1 | 115 | Jul 22, 2020 |
Kabuki syndrome 2 | 13 | Jul 22, 2020 |
Kabuki-like syndrome | 2 | Jul 22, 2020 |
Kleefstra syndrome 1 | 1 | Jul 22, 2020 |
Nicolaides-Baraitser syndrome | 2 | Jul 22, 2020 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Jul 22, 2020 |
Treacher Collins syndrome 1 | 3 | Jul 22, 2020 |
Van der Woude syndrome 1 | 3 | Jul 22, 2020 |
Wiedemann-Steiner syndrome | 4 | Jul 22, 2020 |
X-linked Opitz G/BBB syndrome | 1 | Jul 22, 2020 |