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| Cerebral Palsy v1.88 | PDHX |
Luisa Weiss gene: PDHX was added gene: PDHX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 33528536; 35076175; 34540776 Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349 Review for gene: PDHX was set to GREEN Added comment: Three individual patients from three large CP cohort studies with homozygous PDHX mutations. Note that in one case (PMID 35076175) the patient had both homozygous PDHX and homozygous ACADM mutations, but his phenotype was more consistent with PDHX mutations. Sources: Literature |
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| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Gene: acadm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Classified gene: ACADM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Gene: acadm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | ACADM |
Luisa Weiss gene: ACADM was added gene: ACADM was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 11263545; 35076175 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Review for gene: ACADM was set to AMBER Added comment: Currently unclear if variants in this gene can cause CP. If so, CP is likely to happen as a secondary effect of the brain damage happening if Acyl-CoA dehydrogenase deficiency is not treated correctly or early enough. According to one study, CP can be present in 9% of cases with biallelic mutations in ACADM, probably secondary to the underlying disease and associated with early-onset seizures (PMID 11263545). In a second publication one other case of CP associated with biallelic mutations in ACADM was presented, but this patient's phenotype was likely caused by biallelic mutations in PDHX which were present simultaneously. Sources: Literature |
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