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Fetal anomalies

Gene: RBBP5

Green List (high evidence)
RBBP5 (RB binding protein 5, histone lysine methyltransferase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000117222
EnsemblGeneIds (GRCh37): ENSG00000117222
OMIM: 600697, Gene2Phenotype
RBBP5 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green genes on R27, R29. OMIM gene but not a Morbid gene yet. PMID: 39036895 describes 5 unrelated individuals with de novo heterozygous variants in RBBP5 (3x LoF, 2x missense) with GDD, ID, SNHL, seizures, FTT, microcephaly, hypotonia, male genital anomalies, and short stature. Protein structural analysis and transgenic Drosophila models demonstrate LoF mechanisms involved with the missense variants. Prenatally detected features include SGA, echogenic intracardiac focus, unilateral club foot.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
gene-checked
OMIM
600697
Clinvar variants
Variants in RBBP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RBBP5 were set to

19 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RBBP5.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes neurodevelopmental disorder for gene: RBBP5

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RBBP5 was added gene: RBBP5 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted