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Paediatric pseudo-obstruction syndrome v0.216 | FOCAD | Achchuthan Shanmugasundram commented on gene: FOCAD: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.196 | FOCAD | Arina Puzriakova Mode of inheritance for gene: FOCAD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.36 | FOCAD | Achchuthan Shanmugasundram Phenotypes for gene: FOCAD were changed from to Chronic intestinal pseudoobstruction, MONDO:0017574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.35 | FOCAD | Achchuthan Shanmugasundram Publications for gene: FOCAD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.34 | FOCAD | Achchuthan Shanmugasundram reviewed gene: FOCAD: Rating: RED; Mode of pathogenicity: None; Publications: 31814461; Phenotypes: Chronic intestinal pseudoobstruction, MONDO:0017574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | FOCAD | Eleanor Williams reviewed gene: FOCAD: Rating: ; Mode of pathogenicity: ; Publications: 31814461; Phenotypes: familial intestinal degenerative neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | FOCAD |
Eleanor Williams gene: FOCAD was added gene: FOCAD was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: FOCAD was set to |