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Skeletal Dysplasia_Fetal

Gene: PCNT

Green List (high evidence)
PCNT (pericentrin)
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 15 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Primordial dwarfism with significant prenatal growth restriction and mesomelia reported.
Sources: Literature, Expert list
Created: 28 Sep 2022, 1:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720

Publications

Created: 28 Sep 2022, 1:10 a.m.

Panel version: 0.121

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcnt has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcnt has been classified as Green List (High Evidence).

28 Sep 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: PCNT was added gene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 34978779 Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720 Review for gene: PCNT was set to GREEN