Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. A Noonan syndrome-related gene, but the group decided it should be Amber as there is a less well-evidenced association with craniosynostosis than other Noonan genes
Created: 21 May 2019, 4:07 p.m.
Adding gene following GMS musculoskeletal specialist test group Webex on 2019-05-13. This is a known Noonan syndrome gene.
Sources: Expert list
Created: 21 May 2019, 4:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 617506
Gene: ppp1cb has been classified as Amber List (Moderate Evidence).
gene: PPP1CB was added gene: PPP1CB was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PPP1CB was set to AMBER