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Paediatric pseudo-obstruction syndrome v0.216 | TTC7A | Achchuthan Shanmugasundram commented on gene: TTC7A: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.160 | TTC7A | Achchuthan Shanmugasundram Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.159 | TTC7A | Achchuthan Shanmugasundram Publications for gene: TTC7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.158 | TTC7A | Achchuthan Shanmugasundram Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.157 | TTC7A | Achchuthan Shanmugasundram Classified gene: TTC7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.157 | TTC7A | Achchuthan Shanmugasundram Gene: ttc7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.156 | TTC7A | Achchuthan Shanmugasundram reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31787977, 34975848, 34985046, 35627206; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | TTC7A | Eleanor Williams reviewed gene: TTC7A: Rating: ; Mode of pathogenicity: ; Publications: 31787977; Phenotypes: Lymphoproliferative syndrome and hypergammaglobulinemia and/or chronic intestinal pseudo-obstruction.; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | TTC7A |
Eleanor Williams gene: TTC7A was added gene: TTC7A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TTC7A was set to |