DDG2P
Gene: RYBP

RYBP (RING1 and YY1 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000163602
EnsemblGeneIds (GRCh37): ENSG00000163602
OMIM: 607535, Gene2Phenotype
RYBP is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RYBP-related neurodevelopmental disorder with congenital anomalies are moderate, monoallelic_autosomal and undetermined (PMID:39891528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03700.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

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

Phenotypes
MONDO:0100038; RYBP-related neurodevelopmental disorder with congenital anomalies

Publications

39891528

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RYBP-related neurodevelopmental disorder with congenital anomalies
MONDO:0100038

OMIM

607535

Clinvar variants

Variants in RYBP

Penetrance

None

Publications

39891528

Panels with this gene

DDG2P

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RYBP was added gene: RYBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYBP were set to 39891528 Phenotypes for gene: RYBP were set to RYBP-related neurodevelopmental disorder with congenital anomalies; MONDO:0100038

DDG2P Gene: RYBP