Cerebellar and Pontocerebellar Hypoplasia

Gene: PPP1CB

Red List (low evidence)

Pontocerebellar/cerebellar hypoplasia is not really a feature of this condition, rare reports of DWM.

Created: 29 Apr 2020, 4:24 a.m. | Last Modified: 29 Apr 2020, 4:24 a.m.

Panel Version: 0.114

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)

I don't know

Cerebeller/pontocerebellar hypoplasia does not appear to be a key feature of this phenotype and is not a listed feature in OMIM. Borderline amber/red.

PMID: 27264673; Gripp 2016: Reported 4 patients (3x recurrent P49R + 1 other missense). 3 patients with the recurrent variant developed; Dandy-Walker malformation; Chiari I Malformation; cerebellar tonsillar ectopia

PMID: 28211982; Bertola 2017: Reported 1 patient with same recurrent variant - "normal cranial CT scan". No additional MRI information

PMID: 30236064; Lin 208; Patient reported with unremarkable brain MRI

Gene not in PanelApp UK/RMH list.

Created: 29 Apr 2020, 12:17 a.m. | Last Modified: 29 Apr 2020, 12:17 a.m.

Panel Version: 0.113

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)

Publications

• 27264673
• 28211982
• 30236064