RASopathies
Gene: PPP1CBComment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.Created: 15 Aug 2017, 8:17 a.m.
Comment on list classification: Updated rating from Red to Green: >3 unrelated cases of PPP1CB variants linked to Noonan syndrome-like disorder with loose anagen hair (MIM:617506), and confirmed DD-G2P gene for 'Rasopathy with developmental delay, short stature and sparse slow-growing hair'.Created: 15 Aug 2017, 8:16 a.m.
In a 12-year-old Brazilian boy with features of Noonan syndrome and hair abnormalities, Bertola et al. (2017, PMID:28211982) identified heterozygosity for the recurrent P49R mutation in PPP1CB.Created: 15 Aug 2017, 8:14 a.m.
In a 9-year-old boy who was diagnosed with Noonan syndrome and also had unusual hair, Zambrano et al. (2017, PMID:27868344) identified heterozygosity for the P49R mutation in the PPP1CB gene, which was shown to have arisen de novo.Created: 15 Aug 2017, 8:14 a.m.
In 4 unrelated patients with Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), Gripp et al. (2016, PMID:27264673) identified heterozygosity for de novo missense mutations in the PPP1CB gene, including a recurrent P49R substitution in 3 patients, and an A56P substitution in 1 patient.Created: 15 Aug 2017, 8:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Publications
Mode of inheritance for PPP1CB was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
PPP1CB was added to RASopathiespanel. Sources: Other
PPP1CB was created by rfoulger