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DDG2P

Gene: PAN2

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

2 reviews

Eleanor Williams (Genomics England Curator)

This gene currently no disease phenotype in OMIM, so checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4910
Created: 16 Oct 2023, 7:16 p.m. | Last Modified: 16 Oct 2023, 7:16 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 7:16 p.m.
Last Modified: 16 Oct 2023, 7:16 p.m.
Panel version: 3.73

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, 9:41 p.m. | Last Modified: 18 Dec 2025, 9:41 p.m.
Panel Version: 6.13
The DDG2P confidence category for the disease PAN2-related neurodevelopmental disorder with multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:35304602).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PAN2-related neurodevelopmental disorder with multiple congenital anomalies

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PAN2-related neurodevelopmental disorder with multiple congenital anomalies
  • 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

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PAN2 were changed from PAN2-related neurodevelopmental disorder with multiple congenital anomalies to PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384

18 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: PAN2.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: PAN2.

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PAN2 was added gene: PAN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAN2 were set to 35304602 Phenotypes for gene: PAN2 were set to PAN2-related neurodevelopmental disorder with multiple congenital anomalies