Dobyns Lab
(Seattle Children's Research Institute), DLab-SCRI
General information
Dobyns Lab, DLab-SCRI
Seattle Children's Research Institute
Seattle
United States
Organization ID: 505533
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 60
Gene
| Gene | Submissions | Last Updated |
|---|
| AHDC1 | 1 | Feb 20, 2019 |
| AUTS2 | 1 | Feb 20, 2019 |
| BACH1 | 1 | Feb 20, 2019 |
| BAG6 | 1 | Feb 20, 2019 |
| BCL11A | 2 | Feb 20, 2019 |
| BRAF | 1 | Feb 20, 2019 |
| CASK | 4 | Feb 20, 2019 |
| DDX3X | 2 | Feb 20, 2019 |
| DKC1 | 1 | Feb 20, 2019 |
| DPYSL5 | 1 | Feb 20, 2019 |
| FGFR1 | 1 | Feb 20, 2019 |
| FOXP1 | 2 | Feb 20, 2019 |
| FZD3 | 1 | Feb 20, 2019 |
| GATA6 | 3 | Sep 15, 2015 |
| HYLS1 | 2 | Feb 20, 2019 |
| KIF4A | 1 | Feb 20, 2019 |
| L1CAM | 1 | Feb 20, 2019 |
| LAMA1 | 10 | Sep 16, 2015 |
| LOC101927188 | 1 | Sep 16, 2015 |
| MACF1 | 7 | Apr 9, 2019 |
| PDGFRB | 1 | Feb 20, 2019 |
| PIBF1 | 2 | Feb 20, 2019 |
| PMM2 | 2 | Feb 20, 2019 |
| PUS3 | 2 | Feb 20, 2019 |
| RARS2 | 2 | Feb 20, 2019 |
| SEMA6B | 1 | Feb 20, 2019 |
| SETD2 | 2 | Feb 20, 2019 |
| SPTAN1 | 1 | Feb 20, 2019 |
| STXBP1 | 2 | Feb 20, 2019 |
| TMLHE | 1 | Feb 20, 2019 |
| TUBA1A | 2 | Feb 20, 2019 |
| WDR37 | 1 | Feb 20, 2019 |
Condition
| Name | Submissions | Last Updated | | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Feb 20, 2019 |
| Abnormal cardiovascular system morphology | 3 | Sep 15, 2015 |
| Arthrogryposis multiplex congenita | 1 | Feb 20, 2019 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 10 | Sep 16, 2015 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Feb 20, 2019 |
| Cephalocele | 2 | Feb 20, 2019 |
| Cerebellar vermis hypoplasia | 13 | Feb 20, 2019 |
| Congenital diaphragmatic hernia | 3 | Sep 15, 2015 |
| Corpus callosum, agenesis of | 8 | Feb 20, 2019 |
| Developmental and epileptic encephalopathy, 4 | 2 | Feb 20, 2019 |
| Developmental and epileptic encephalopathy, 5 | 1 | Feb 20, 2019 |
| Dias-Logan syndrome | 2 | Feb 20, 2019 |
| Dyskeratosis congenita, X-linked | 1 | Feb 20, 2019 |
| Facial hemangioma | 1 | Feb 20, 2019 |
| Genetic syndrome with a Dandy-Walker malformation as major feature | 5 | Feb 20, 2019 |
| Grade I preterm intraventricular hemorrhage | 1 | Feb 20, 2019 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Feb 20, 2019 |
| Hydrocephalus | 3 | Feb 20, 2019 |
| Intellectual disability, X-linked 100 | 1 | Feb 20, 2019 |
| Intellectual disability, X-linked 102 | 2 | Feb 20, 2019 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Feb 20, 2019 |
| Isolated unilateral hemispheric cerebellar hypoplasia | 3 | Feb 20, 2019 |
| Joubert syndrome 33 | 2 | Feb 20, 2019 |
| Lissencephaly | 1 | Apr 9, 2019 |
| Lissencephaly due to TUBA1A mutation | 2 | Feb 20, 2019 |
| Lissencephaly with decussation defect | 5 | Apr 9, 2019 |
| Luscan-Lumish syndrome | 2 | Feb 20, 2019 |
| Multicystic kidney dysplasia | 2 | Feb 20, 2019 |
| Multiple congenital anomalies | 1 | Feb 20, 2019 |
| Myofibromatosis, infantile, 1 | 1 | Feb 20, 2019 |
| PHACE syndrome | 1 | Feb 20, 2019 |
| PMM2-congenital disorder of glycosylation | 2 | Feb 20, 2019 |
| Periventricular nodular heterotopia | 1 | Feb 20, 2019 |
| Pontocerebellar hypoplasia type 6 | 2 | Feb 20, 2019 |
| Ritscher-Schinzel syndrome 1 | 1 | Feb 20, 2019 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2 | Feb 20, 2019 |
| Syndrome with a Dandy-Walker malformation as major feature | 1 | Feb 20, 2019 |
| Syndromic X-linked intellectual disability Najm type | 4 | Feb 20, 2019 |
| Tethered cord | 1 | Feb 20, 2019 |
| Ventriculomegaly | 3 | Feb 20, 2019 |
| West syndrome | 1 | Feb 20, 2019 |
| X-linked complicated corpus callosum dysgenesis | 1 | Feb 20, 2019 |
