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  3. PARD3
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Gastrointestinal epithelial barrier disorders

Gene: PARD3

Red List (low evidence)
PARD3 (par-3 family cell polarity regulator)
EnsemblGeneIds (GRCh38): ENSG00000148498
EnsemblGeneIds (GRCh37): ENSG00000148498
OMIM: 606745, Gene2Phenotype
PARD3 is in 1 panel

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
Enhanced Epithelial Permeability; Celiac Disease

Publications

Created: 21 Jul 2017, 1:55 p.m.

Panel version: 0.9

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • Enhanced Epithelial Permeability
OMIM
606745
Clinvar variants
Variants in PARD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Set penetrance

Olivia Niblock (Genomics England Curator)

Phenotypes for gene PARD3 were set to Enhanced Epithelial Permeability

21 Jul 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

PARD3 was created by oniblock

21 Jul 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

PARD3 was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Literature