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| Hereditary Neuropathy_CMT - isolated v1.9 | COX20 | Zornitza Stark Marked gene: COX20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.9 | COX20 | Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.9 | COX20 | Zornitza Stark Classified gene: COX20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.9 | COX20 | Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.8 | COX20 | Zornitza Stark reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751098; Phenotypes: Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.8 | COX20 |
Hazel Phillimore changed review comment from: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1). Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*) All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years. The clinical presentations of these patients showed some overlaps in central and peripheral nervous systems. However, our patients presented predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity. Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction.. Sources: Literature; to: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1). Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*) All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years. The clinical presentations of these patients showed some overlap in central and peripheral nervous systems. They presented with predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity. Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction.. Sources: Literature |
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| Hereditary Neuropathy_CMT - isolated v1.8 | COX20 |
Hazel Phillimore gene: COX20 was added gene: COX20 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX20 were set to PMID: 33751098 Phenotypes for gene: COX20 were set to sensory neuronopathy; sensory neuron disease; ganglionopathy Review for gene: COX20 was set to GREEN Added comment: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1). Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*) All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years. The clinical presentations of these patients showed some overlaps in central and peripheral nervous systems. However, our patients presented predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity. Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction.. Sources: Literature |
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