The Study Findings table contains information on the genetic findings of a particular NESHIE or CP genetic study. Variants with statistically-significant associations with NESHIE or CP have p-values < 0.05. Odds ratio values quantify the strength of association of a variant allele with NESHIE or CP.
Paper: van Eyk et al., 2019
DOI: 10.1038/s41525-019-0101-z
Study population description: Australian; 366 CP cases including 271 cases previously tested by whole exome sequencing by McMichael et al., 2015
Regional classification: Oceania
Sequencing or genotyping methods: Next generation sequencing using a custom gene panel of 112 candidate genes
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_153186.5:c.316C>T | T allele | CP | Developmental delay, epilepsy | Not determined | None | None |
| NM_153186.5:c.3290C>T | T allele | CP | Developmental delay | Not determined | None | None |
| NM_153186.5:c.2515G>C | C allele | CP | Spastic hemiplegia, possible periventricular leukomalacia | Not determined | None | None |
| NM_153186.5:c.2398G>A | A allele | CP | Spastic/dystonic diplegia, neonatal encephalopathy, developmental delay, seizure, cerebral oedema | Not determined | None | None |
| NM_153186.5:c.3005G>A | A allele | CP | Spastic/dystonic quadriplegia | Not determined | None | None |
| NM_153186.5:c.3569G>A | A allele | CP | None | Not determined | None | None |
| NM_001845.6:c.2413G>A | T allele | CP | Spastic quadriplegia with generalised hypotonia, dystonic posture, intellectual disability, epilepsy, periventricular leukomalacia | Not determined | None | None |
| NM_001303110.1:c.136G>A | T allele | CP | Spastic hemiplegia, periventricular leukomalacia | Not determined | None | None |
| NM_001845.6:c.4516A>G | C allele | CP | Spastic hemiplegia | Not determined | None | None |
| NM_003889.3:c.1087G>A | A allele | CP | NESHIE; dyskinetic mixed diplegia, seizures | Not determined | None | None |
| NM_001080463.1:c.3794G>A | A allele | CP | NESHIE; spastic quadriplegia, dykinesia, seizures, diagnosed neonatal encephalopathy | Not determined | None | None |
| NM_153186.5:c.2584G>A | A allele | CP | NESHIE; spastic quadriplegia, dykinesia, seizures, diagnosed neonatal encephalopathy | Not determined | None | None |
| NM_001080463.1:c.6916T>C | C allele | CP | Spastic diplegia, mild dystonia, epilepsy, developmental delay | Not determined | None | None |
| NM_001080463:c.G5158A | A allele | CP | Spastic hemiplegia, possible periventricular leukomalacia | Not determined | None | None |
| NM_153186.5:c.316C>T | T allele | CP | Developmental delay, epilepsy | Not determined | None | None |
| NM_153186.5:c.3290C>T | T allele | CP | Developmental delay | Not determined | None | None |
| NM_153186.5:c.3569G>A | A allele | CP | Not determined | None | None | |
| NM_001845.6:c.2447C>T | A allele | CP | Spastic diplegia, neonatal seizures, developmental delay | Not determined | None | None |
| NM_001845.6:c.4856G>A | T allele | CP | Spastic hemiplegia, neonatal lung disease, developmental delay, mild periventricular leukomalacia | Not determined | None | None |
| NM_153186.5:c.2515G>C | C allele | CP | Spastic hemiplegia, possible periventricular leukomalacia | Not determined | None | None |
| NM_001845.6:c.2413G>A | T allele | CP | Spastic quadriplegia with generalised hypotonia, dystonic posture, intellectual disability, epilepsy, periventricular leukomalacia | Not determined | None | None |
| NM_001303110.1:c.136G>A | T allele | CP | Spastic hemiplegia, periventricular leukomalacia | Not determined | None | None |
| NM_001845.6:c.4516A>G | C allele | CP | Spastic hemiplegia | Not determined | None | None |
| rs375509312 | A allele | CP | Female, born 40 weeks, father’s second cousin CP, asthma and eczema. | Not determined | None | None |
| NM_001377:c.A9862T | T allele | CP | Spastic quadriplegia, diagnosed neonatal encephalopathy, watershed and cerebral cortex brain injury | Not determined | None | None |
| NM_001377.3:c.9968C>G | G allele | CP | Spastic quadriplegia | Not determined | None | None |
| NM_001080463.1:c.5492A>G | G allele | CP | None | Not determined | None | None |
| NM_033013.2:c.944-1G>T | T allele | CP | Spastic hemiplegia | Not determined | None | None |
| NM_001276336.1:c.214C>G | G allele | CP | Spastic diplegia, seizures, periventricular leukomalacia | Not determined | None | None |
| NM_001276337.1:c.277C>T | T allele | CP | Spastic hemiplegia | Not determined | None | None |
| NM_001845.6:c.2494G>A | T allele | CP | Choreoathetoid quadriplegia, cystic porencephaly, damage to small blood vessels with increased risk of haemorrhage, epileptic encephalopathy, seizure, developmental delay | Not determined | None | None |
| rs387906799 | A allele | CP | Male, spastic quad, born 40 weeks, partial dysgenesis of corpus callosum, global DD, Ep (first seizure at 12 months), optic atrophy (cortically blind); type 1 diabetes, scoliosis in the lumbar region and an oblique pelvis, incontinent of faeces and urine, cortical atrophy has been progressive. | Not determined | None | None |
| NM_153186.5:c.2398G>A | A allele | CP | Spastic/dystonic diplegia, neonatal encephalopathy, developmental delay, seizure, cerebral oedema | Not determined | None | None |
| NM_153186.5:c.3005G>A | A allele | CP | Spastic/dystonic quadriplegia | Not determined | None | None |
| rs672601370 | A allele | CP | Female, spastic/dystonic diplegia, more dystonic than spastic with intermittent hypertonicity, born 35 weeks, BW: 10th percentile, SGA, microcephaly, developmental disorders and cortical visual impairment, MRI and X-Ray: Non-specific hyperintensity within the posterior parietal deep white matter, and in the cerebelli, posterior to the dentate nuclei. Bilateral cortical heterotopia in the inferior occipital horns. | Not determined | None | None |