| - GRCh37:
- Chr4:24544571
- GRCh38:
- Chr4:24542948
| DHX15 | K443E | Seizure, Gray matter heterotopia, Intellectual disability, moderate,
Abnormal facial shape, Patent ductus arteriosus, Cerebral white matter hypoplasia,
Delayed speech and language development, Periventricular heterotopia | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr8:68396042
- Chr8:68419039
- GRCh38:
- Chr8:67483807
- Chr8:67506804
| ARFGEF1-DT, CPA6, CPA6 | G267R, Q207E | Cerebral palsy | Likely pathogenic
(Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031118
- GRCh38:
- ChrX:25013001
| ARX | R332C | Corpus callosum, agenesis of, Arachnoid cyst, Periventricular heterotopia
| Likely pathogenic
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30627820
- GRCh38:
- Chr6:30660043
| DHX16 | F101I, F522I, F582I | Intellectual disability, Neurodevelopmental delay, Chorioretinal lacunae,
Seizure, Corpus callosum, agenesis of, Periventricular heterotopia,
Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neurodevelopmental disorders | Pathogenic/Likely pathogenic
(Jul 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:184075273
- GRCh38:
- Chr3:184357485
| CLCN2 | V259I, V215I | Attention deficit hyperactivity disorder, Periventricular heterotopia, Prominent fingertip pads,
Autistic behavior, Seizure, 2-3 toe syndactyly,
Broad forehead, Clinodactyly of the 5th finger, Cognitive impairment
| Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:6661968
- GRCh38:
- Chr11:6640737
| DCHS1 | E293K | Inborn genetic diseases, not provided, Hypoplasia of the corpus callosum,
Generalized hypotonia, Neonatal hypotonia, Periventricular heterotopia,
Relative macrocephaly, Joint hypermobility, Global developmental delay,
Delayed speech and language development, Abnormal renal pelvis morphologyHypopigmented skin patches,
Abnormal corpus callosum morphology, ...see more | Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:6661166
- GRCh38:
- Chr11:6639935
| DCHS1 | S560F | Inborn genetic diseases, not provided, Hypoplasia of the corpus callosum,
Generalized hypotonia, Neonatal hypotonia, Periventricular heterotopia,
Relative macrocephaly, Joint hypermobility, Global developmental delay,
Delayed speech and language development, Abnormal renal pelvis morphologyHypopigmented skin patches,
Abnormal corpus callosum morphology, ...see more | Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2169369
- GRCh38:
- Chr16:2119368
| PKD1 | H76Y | Plantar crease between first and second toes, Polycystic kidney dysplasia, Abnormality of the nail,
Dry skin, Overlapping fingers, Missing ribs,
Hyperechogenic kidneys, Hemivertebrae, Seizure,
Secundum atrial septal defect, Periventricular heterotopiaAbnormal cortical gyration,
Polycystic kidney disease, adult type, ...see more | Uncertain significance
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:68419039
- GRCh38:
- Chr8:67506804
| CPA6 | Q207E | Familial temporal lobe epilepsy 5, Febrile seizures, familial, 11, Familial temporal lobe epilepsy 5,
Febrile seizures, familial, 11, not provided, Global developmental delay
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:6662466
- GRCh38:
- Chr11:6641235
| DCHS1 | V127I | Hypopigmented skin patches, Generalized hypotonia, Neonatal hypotonia,
Periventricular heterotopia, Joint hypermobility, Relative macrocephaly,
Delayed speech and language development, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology,
Abnormal renal pelvis morphology, Global developmental delaynot provided,
...see more | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:68396042
- GRCh38:
- Chr8:67483807
| ARFGEF1-DT, CPA6 | G267R | Global developmental delay, Familial temporal lobe epilepsy 5, Febrile seizures, familial, 11,
not provided, Familial temporal lobe epilepsy 5, Febrile seizures, familial, 11
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |