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Paediatric pseudo-obstruction syndrome v0.216 | RAD21 | Achchuthan Shanmugasundram commented on gene: RAD21: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.121 | RAD21 | Achchuthan Shanmugasundram Phenotypes for gene: RAD21 were changed from to Mungan syndrome, OMIM:611376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.120 | RAD21 | Achchuthan Shanmugasundram Publications for gene: RAD21 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.119 | RAD21 | Achchuthan Shanmugasundram Mode of inheritance for gene: RAD21 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.118 | RAD21 | Achchuthan Shanmugasundram Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.118 | RAD21 | Achchuthan Shanmugasundram Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.117 | RAD21 | Achchuthan Shanmugasundram Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.117 | RAD21 | Achchuthan Shanmugasundram Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.116 | RAD21 | Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: None; Publications: 14638363, 21832993, 25575569, 31848803, 32687945; Phenotypes: Mungan syndrome, OMIM:611376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | RAD21 | Eleanor Williams reviewed gene: RAD21: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Pseudo-obstruction, megaduodenum, long segment Barretts esophagus and cardiac abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | RAD21 |
Eleanor Williams gene: RAD21 was added gene: RAD21 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: RAD21 was set to |