Pigmentary skin disordersGene: PPP1CB
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2
Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green gene.
Created: 17 Sep 2019, 5:08 p.m. | Last Modified: 17 Sep 2019, 5:08 p.m.
Panel Version: 0.13
Added phenotypes NSLH2; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 for gene: PPP1CB Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 27264673
gene: PPP1CB was added gene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair