Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Monogenic diabetes v2.34 | PPP1R15B | Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v1.34 | PPP1R15B | Ivone Leong Phenotypes for gene: PPP1R15B were changed from to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.29 | PPP1R15B | Ivone Leong Mode of inheritance for gene: PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.21 | PPP1R15B | Ivone Leong Classified gene: PPP1R15B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.21 | PPP1R15B | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.21 | PPP1R15B | Ivone Leong Gene: ppp1r15b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.8 | PPP1R15B | Ivone Leong reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.7 | PPP1R15B |
Ivone Leong gene: PPP1R15B was added gene: PPP1R15B was added to Monogenic diabetes. Sources: NHS GMS Mode of inheritance for gene: PPP1R15B was set to |