1. Panels
  2. DDG2P
  3. PHF5A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: PHF5A

Green List (high evidence)
PHF5A (PHD finger protein 5A)
EnsemblGeneIds (GRCh38): ENSG00000100410
EnsemblGeneIds (GRCh37): ENSG00000100410
PHF5A is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PHF5A-related neurodevelopmental disorder with congenital malformations are moderate, monoallelic_autosomal and undetermined (PMIDs: 33811463, 37422718). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03487.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PHF5A-related neurodevelopmental disorder with congenital malformations is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33811463;37422718).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PHF5A-related neurodevelopmental disorder with congenital malformations; MONDO:0100038

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PHF5A-related neurodevelopmental disorder with congenital malformations
Tags
gene-checked
Clinvar variants
Variants in PHF5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PHF5A was changed from Other to None

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: PHF5A.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PHF5A was added gene: PHF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHF5A were set to 37422718; 33811463 Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations Mode of pathogenicity for gene: PHF5A was set to Other