PCNT

Green PCNT in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Green
• Literature

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Amber PCNT in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Yorkshire and North East GLH
• NHS GMS
• Expert list

Phenotypes

• Moyamoya disease, MONDO:0016820
• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Green PCNT in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Literature

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
• Insulin resistance, HP:0000855

Green PCNT in Limb disorders

Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert Review Green
• London South East RGC GSTT
• Viapath

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Amber PCNT in Lipodystrophy - childhood onset

Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS
• Expert list

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
• Insulin resistance, HP:0000855

Tags

• Q3_23_promote_green
• Q3_23_NHS_review

No list PCNT in Monogenic diabetes

Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

Sources

• Expert Review Removed

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II

Tags

• curated_removed

Green PCNT in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Other
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
• Microcephalic primordial dwarfism

Green PCNT in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Emory Genetics Laboratory
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Green PCNT in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

No list PCNT in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green PCNT in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Red PCNT in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• Expert list

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Green PCNT in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

Green PCNT in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type II, 210720