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  3. PATJ
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Fetal anomalies

Gene: PATJ

Amber List (moderate evidence)
PATJ (PATJ, crumbs cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000132849
EnsemblGeneIds (GRCh37): ENSG00000132849
OMIM: 603199, Gene2Phenotype
PATJ is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
This review was added on behalf of Dr Tazeen Ashraf (GOSH): 40931526: The affected fetus reported was homozygous for PATJ variants and presented with a syndromic phenotype mainly characterized by polycystic kidney disease and hydrocephalus. Not currently on panelapp and only one associated case in the literature - needs further review. Also zebrafish model and LOF variants in the case reported. Needs furhter review to go green.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ciliopathy
OMIM
603199
Clinvar variants
Variants in PATJ
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes ciliopathy for gene: PATJ

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PATJ was added gene: PATJ was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal