Cerebral vascular malformations

Gene: PCNT

Amber List (moderate evidence)

PCNT (pericentrin)
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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

Alice Gardham (Genomics England)

Green List (high evidence)

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 disease
Created: 12 Dec 2016, 4:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert list
Phenotypes
  • Moyamoya disease
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
OMIM
605925
Clinvar variants
Variants in PCNT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PCNT. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PCNT.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PCNT.

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PCNT were set to Moyamoya disease;Microcephalic osteodysplastic primordial dwarfism, type II 210720

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PCNT were set to 15368497

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PCNT was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PCNT was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCNT was created by ellenmcdonagh