Fetal anomalies
Gene: PAN2

PAN2 (PAN2 poly(A) specific ribonuclease subunit)
EnsemblGeneIds (GRCh38): ENSG00000135473
EnsemblGeneIds (GRCh37): ENSG00000135473
OMIM: 617447, Gene2Phenotype
PAN2 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 9:39 p.m. | Last Modified: 18 Dec 2025, 9:39 p.m.

Panel Version: 6.128

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Samantha Doyle (The National Maternity Hospital)

Green List (high evidence)

AR gene described in 2 publications. PMID: 35304602. This paper describes 5 affected individuals from 3 unrelated families who presetned with developmental delay and multiple congenital anomalies including congenital heart disease, craniofacial abnormalities, uruinary tract abnormalities,skeletal anomalies and dysmorphic features (which might be appreciated on prenatal ultrasound). PMID: 29620724- This paper outlines one individual with neurodevelopmental disorder and multiple congenital anomalies including congenital heart disease, craniofacial features, skeletal anomalies and urinary tract anomalies which would be detected on prenatal ultrasound. this was the first paper published associating this gene with this phenotype in 2018.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic disease MONDO:0002254

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384

OMIM

617447

Clinvar variants

Variants in PAN2

Penetrance

None

Publications

Panels with this gene