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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