Human Genetics Department
(DeNA Laboratory)
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 16
Gene
| Gene | Submissions | Last Updated |
|---|
| ADPRS | 1 | Apr 30, 2020 |
| CDH23 | 1 | Sep 23, 2020 |
| CLN3 | 1 | Feb 13, 2021 |
| CTSK | 2 | Sep 16, 2019 |
| GPT2 | 1 | Oct 10, 2019 |
| LMNB2 | 1 | Dec 8, 2020 |
| MFSD2A | 1 | Aug 29, 2019 |
| MITF | 1 | Feb 25, 2021 |
| PLAA | 1 | Apr 5, 2021 |
| RAB3GAP1 | 1 | Feb 12, 2021 |
| RELN | 1 | Aug 7, 2019 |
| SLC6A3 | 1 | Oct 17, 2019 |
| ST3GAL3 | 1 | Jan 17, 2020 |
| TMC1 | 1 | Sep 23, 2019 |
| WDR62 | 1 | Feb 16, 2021 |
Condition
| Name | Submissions | Last Updated | | Abdominal distention | 1 | Apr 30, 2020 |
| Abnormal corpus callosum morphology | 1 | Feb 12, 2021 |
| Abnormal cranial suture/fontanelle morphology | 1 | Sep 16, 2019 |
| Abnormal skull morphology | 1 | Sep 16, 2019 |
| Absent speech | 1 | Feb 12, 2021 |
| Aggressive behavior | 2 | Jan 17, 2020 |
| Arthritis | 1 | Aug 7, 2019 |
| Arthritis, sacroiliac | 1 | Aug 7, 2019 |
| Atypical absence seizure | 1 | Apr 30, 2020 |
| Axial hypotonia | 1 | Apr 30, 2020 |
| Bilateral microphthalmos | 1 | Feb 12, 2021 |
| Bilateral sensorineural hearing impairment | 3 | Sep 23, 2020 |
| Cerebral hypomyelination | 1 | Feb 12, 2021 |
| Cleft palate | 1 | Feb 12, 2021 |
| Congenital ptosis | 1 | Feb 12, 2021 |
| Cortical thickening of humeral diaphysis | 1 | Feb 12, 2021 |
| Cryptorchidism | 2 | Feb 12, 2021 |
| Delayed closure of the anterior fontanelle | 1 | Sep 16, 2019 |
| Delayed cranial suture closure | 1 | Aug 29, 2019 |
| Delayed gross motor development | 1 | Aug 29, 2019 |
| Delayed speech and language development | 4 | Apr 30, 2020 |
| Dental crowding | 1 | Sep 16, 2019 |
| Developmental cataract | 1 | Feb 12, 2021 |
| Difficulty walking | 2 | Jan 17, 2020 |
| Dysphagia | 1 | Oct 17, 2019 |
| Enamel hypoplasia | 1 | Sep 16, 2019 |
| Enthesitis | 1 | Aug 7, 2019 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Aug 29, 2019 |
| Fetal growth restriction | 1 | Aug 29, 2019 |
| Frequent falls | 2 | Jan 17, 2020 |
| Functional abnormality of male internal genitalia | 1 | Aug 29, 2019 |
| Gait imbalance | 1 | Oct 17, 2019 |
| Generalized myoclonic seizure | 1 | Dec 8, 2020 |
| Hearing impairment | 1 | Sep 23, 2020 |
| Humeral cortical thickening | 1 | Feb 12, 2021 |
| Hyperammonemia | 1 | Aug 29, 2019 |
| Hypertrichosis | 1 | Feb 12, 2021 |
| Increased susceptibility to fractures | 2 | Sep 16, 2019 |
| Infantile axial hypotonia | 1 | Feb 12, 2021 |
| Inflammation of the large intestine | 1 | Aug 7, 2019 |
| Intellectual disability | 1 | Aug 29, 2019 |
| Intellectual disability, mild | 1 | Oct 10, 2019 |
| Intellectual disability, moderate | 1 | Sep 23, 2019 |
| Intellectual disability, severe | 2 | Feb 12, 2021 |
| Irritability | 1 | Oct 17, 2019 |
| Kyphosis | 1 | Aug 7, 2019 |
| Limb dystonia | 1 | Oct 17, 2019 |
| Loss of consciousness | 1 | Apr 30, 2020 |
| Low back pain | 1 | Aug 7, 2019 |
| Low-set ears | 1 | Feb 12, 2021 |
| Macrocephaly | 2 | Sep 16, 2019 |
| Microcephaly | 1 | Aug 29, 2019 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Feb 16, 2021 |
| Midface retrusion | 1 | Sep 16, 2019 |
| Movement disorder | 1 | Feb 12, 2021 |
| Nail dysplasia | 2 | Sep 16, 2019 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Apr 5, 2021 |
| Neuronal ceroid lipofuscinosis 3 | 1 | Feb 13, 2021 |
| Obtuse angle of mandible | 1 | Sep 16, 2019 |
| Periodontitis | 1 | Sep 16, 2019 |
| Progressive gait ataxia | 1 | Apr 30, 2020 |
| Progressive sensorineural hearing impairment | 1 | Apr 30, 2020 |
| Prolonged neonatal jaundice | 1 | Jan 17, 2020 |
| Rigidity | 1 | Feb 12, 2021 |
| Sacroiliac joint synovitis | 1 | Aug 7, 2019 |
| Scoliosis | 2 | Aug 29, 2019 |
| Short finger | 1 | Sep 16, 2019 |
| Short phalanx of finger | 1 | Aug 29, 2019 |
| Short stature | 2 | Sep 16, 2019 |
| Skeletal dysplasia | 2 | Sep 16, 2019 |
| Spasticity | 1 | Feb 12, 2021 |
| Synovitis | 1 | Aug 7, 2019 |
| Thoracic scoliosis | 1 | Sep 16, 2019 |
| Thoracolumbar scoliosis | 1 | Feb 12, 2021 |
| Waardenburg syndrome type 2A | 1 | Feb 25, 2021 |
