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| Paediatric pseudo-obstruction syndrome v0.216 | SOX10 | Achchuthan Shanmugasundram commented on gene: SOX10: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.139 | SOX10 | Achchuthan Shanmugasundram Phenotypes for gene: SOX10 were changed from to PCWH syndrome, OMIM:609136; Waardenburg syndrome, type 4C, OMIM:613266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.138 | SOX10 | Achchuthan Shanmugasundram Publications for gene: SOX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.137 | SOX10 | Achchuthan Shanmugasundram Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.136 | SOX10 | Achchuthan Shanmugasundram Classified gene: SOX10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.136 | SOX10 | Achchuthan Shanmugasundram Gene: sox10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.135 | SOX10 | Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189494; Phenotypes: PCWH syndrome, OMIM:609136, Waardenburg syndrome, type 4C, OMIM:613266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | SOX10 | Eleanor Williams reviewed gene: SOX10: Rating: ; Mode of pathogenicity: ; Publications: 29570554, 31848803; Phenotypes: Peripheral neuropathy with hypomyelination, sensorineural deafness and pseudo-obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | SOX10 |
Eleanor Williams gene: SOX10 was added gene: SOX10 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SOX10 was set to |
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