Cerebral vascular malformations
Gene: PCNT
Combined reviews: Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott & Helen Brittain) - although potentially relevant, amber at present in view of likely presentation with significant short stature.Created: 29 Nov 2019, 7:05 p.m. | Last Modified: 29 Nov 2019, 7:05 p.m.
Panel Version: 1.67
Moyamoya is a recognised complication of MOPD type II. 19% affected individuals in one series had developed dilation of the CNS arteries variously described as aneurysms and moyamoya diseaseCreated: 12 Dec 2016, 4:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720
Publications
Phenotypes for gene: PCNT were changed from Moyamoya disease; Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Moyamoya disease, MONDO:0016820; Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Source Expert Review Amber was added to PCNT. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to PCNT.
Source NHS GMS was added to PCNT.
Phenotypes for PCNT were set to Moyamoya disease;Microcephalic osteodysplastic primordial dwarfism, type II 210720
Publications for PCNT were set to 15368497
Mode of inheritance for PCNT was changed to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PCNT was added to Cerebrovascular disorderspanel. Sources: Expert list
PCNT was created by ellenmcdonagh