Gene Discovery Core-Manton Center
(Boston Children's Hospital)
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 60
Gene
| Gene | Submissions | Last Updated |
|---|
| ADCY5 | 1 | Jul 15, 2021 |
| AIFM1 | 1 | Dec 12, 2016 |
| ASXL1 | 1 | Jul 15, 2021 |
| ATP1A3 | 1 | Oct 25, 2016 |
| BCORL1 | 1 | Apr 13, 2023 |
| C19orf12 | 2 | Jul 15, 2021 |
| CAMK2B | 1 | Feb 5, 2019 |
| CELF2 | 1 | Apr 13, 2023 |
| CELF2-AS1 | 1 | Apr 13, 2023 |
| CLCN3 | 8 | Jul 29, 2021 |
| CLTC | 1 | Feb 5, 2019 |
| DARS2 | 2 | Jul 15, 2021 |
| DCHS1 | 2 | Jul 15, 2021 |
| EIF4A2 | 9 | Oct 24, 2022 |
| FBXO11 | 1 | Feb 5, 2019 |
| FOXP1 | 1 | Jul 15, 2021 |
| GPHN | 1 | Oct 29, 2020 |
| GRIN2A | 1 | Jul 15, 2021 |
| IGF1R | 1 | Jul 15, 2021 |
| IGHMBP2 | 1 | Jul 15, 2021 |
| KCTD7 | 2 | Jul 15, 2021 |
| KMT2A | 1 | Jul 15, 2021 |
| MAP1B | 1 | Feb 5, 2019 |
| MECOM | 1 | Jul 15, 2021 |
| MKS1 | 2 | Jul 15, 2021 |
| NBEA | 1 | Apr 13, 2023 |
| PALS1 | 1 | Oct 29, 2020 |
| PMP22 | 1 | Jul 15, 2021 |
| PMPCA | 2 | Jan 23, 2016 |
| PNPO | 1 | Jul 15, 2021 |
| PPM1D | 1 | Feb 5, 2019 |
| PRKAR1A | 1 | Feb 5, 2019 |
| QRICH1 | 1 | Jul 15, 2021 |
| RAB33A | 1 | Dec 12, 2016 |
| RCL1 | 1 | Jan 25, 2021 |
| SPTAN1 | 1 | Jul 15, 2021 |
| TAF1 | 1 | Jul 15, 2021 |
| TBL1XR1 | 1 | Jul 15, 2021 |
| TBX4 | 1 | Jul 15, 2021 |
| TFAP2B | 1 | Jan 2, 2019 |
| WNT2B | 1 | May 12, 2018 |
Condition
| Name | Submissions | Last Updated | | Abnormal facial shape | 2 | Oct 29, 2020 |
| Acrodysostosis 1 with or without hormone resistance | 1 | Feb 5, 2019 |
| Anxiety | 1 | Oct 29, 2020 |
| Arachnoid cyst | 1 | Oct 29, 2020 |
| Attention deficit hyperactivity disorder | 1 | Feb 5, 2019 |
| Bilateral ptosis | 2 | Jan 23, 2016 |
| Blindness | 2 | Jan 23, 2016 |
| Bohring-Opitz syndrome | 1 | Jul 15, 2021 |
| Cerebral palsy | 1 | Oct 29, 2020 |
| Char syndrome | 1 | Jan 2, 2019 |
| Charcot-Marie-Tooth disease axonal type 2S | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type IA | 1 | Jul 15, 2021 |
| Chronic diarrhea | 1 | May 12, 2018 |
| Chronic lactic acidosis | 2 | Jan 23, 2016 |
| Coxopodopatellar syndrome | 1 | Jul 15, 2021 |
| Developmental and epileptic encephalopathy 97 | 1 | Apr 13, 2023 |
| Developmental and epileptic encephalopathy, 5 | 1 | Jul 15, 2021 |
| Diarrhea | 1 | May 12, 2018 |
| Diffuse cerebellar atrophy | 2 | Jan 23, 2016 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Jul 15, 2021 |
| Failure to thrive | 3 | May 12, 2018 |
| Failure to thrive in infancy | 1 | May 12, 2018 |
| Global brain atrophy | 2 | Jan 23, 2016 |
| Global developmental delay | 1 | Feb 5, 2019 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Jul 15, 2021 |
| Hypertrophic cardiomyopathy | 2 | Jan 23, 2016 |
| Hypotonia | 1 | Feb 5, 2019 |
| Hypoventilation | 2 | Jan 23, 2016 |
| Impaired feeding ability | 1 | May 12, 2018 |
| Infantile muscular hypotonia | 2 | Jan 23, 2016 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Feb 5, 2019 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Feb 5, 2019 |
| Intellectual disability | 1 | Oct 29, 2020 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Jul 15, 2021 |
| Intellectual disability, autosomal dominant 41 | 1 | Jul 15, 2021 |
| Intellectual disability, autosomal dominant 54 | 1 | Feb 5, 2019 |
| Intellectual disability, autosomal dominant 56 | 1 | Feb 5, 2019 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jul 15, 2021 |
| Joubert syndrome 28 | 2 | Jul 15, 2021 |
| Juvenile onset psychosis | 1 | Oct 25, 2016 |
| Landau-Kleffner syndrome | 1 | Jul 15, 2021 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Jul 15, 2021 |
| Metopic synostosis | 1 | Feb 5, 2019 |
| Neurodegeneration with brain iron accumulation 4 | 2 | Jul 15, 2021 |
| Neurodevelopmental delay | 8 | Jul 29, 2021 |
| Neurodevelopmental disorder | 9 | Oct 24, 2022 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Apr 13, 2023 |
| Normal pressure hydrocephalus | 2 | Jan 23, 2016 |
| Optic atrophy | 2 | Jan 23, 2016 |
| Progressive myoclonic epilepsy type 3 | 2 | Jul 15, 2021 |
| Psychotic disorder | 2 | Jan 25, 2021 |
| Pyloric stenosis | 1 | Feb 5, 2019 |
| Pyridoxal phosphate-responsive seizures | 1 | Jul 15, 2021 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Jul 15, 2021 |
| Restrictive external ophthalmoplegia | 2 | Jan 23, 2016 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Dec 12, 2016 |
| Severe global developmental delay | 2 | Jan 23, 2016 |
| Shukla-Vernon syndrome | 1 | Apr 13, 2023 |
| Van Maldergem syndrome 1 | 2 | Jul 15, 2021 |
| Ververi-Brady syndrome | 1 | Jul 15, 2021 |
| Wiedemann-Steiner syndrome | 1 | Jul 15, 2021 |
