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DDG2P

Gene: RPH3A

Red List (low evidence)
RPH3A (rabphilin 3A)
EnsemblGeneIds (GRCh38): ENSG00000089169
EnsemblGeneIds (GRCh37): ENSG00000089169
OMIM: 612159, Gene2Phenotype
RPH3A is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease RPH3A-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37403762).
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
RPH3A-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • RPH3A-related neurodevelopmental disorder
Tags
de novo
OMIM
612159
Clinvar variants
Variants in RPH3A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: RPH3A.

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RPH3A was added gene: RPH3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPH3A were set to 37403762 Phenotypes for gene: RPH3A were set to RPH3A-related neurodevelopmental disorder Mode of pathogenicity for gene: RPH3A was set to Other