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Fetal anomalies

Gene: RRP12

Amber List (moderate evidence)
RRP12 (ribosomal RNA processing 12 homolog)
EnsemblGeneIds (GRCh38): ENSG00000052749
EnsemblGeneIds (GRCh37): ENSG00000052749
OMIM: 617723, Gene2Phenotype
RRP12 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Soo-Mi Park (CUHNFT)

I don't know

MIM 621452. Not a G2P gene. Not on PanelApp. Infantile to adult onset phenotype, overlaps with AGS. PMID: 41059649 reports two unrelated Pakistani patients from consanguineous families, presenting with infantile-onset generalized dystonia, spasticity, microcephaly, seizures, speech delay, ID, pseudobulbar palsy with emotional lability, and anarthria with widespread brain calcifications and white matter changes who are homozygous for the same rare missense variant in the RRP12 gene. The paper also reports two affected French siblings and one unrelated Chinese individual, each carrying rare, biallelic, missense variants in the RRP12 gene. Molecular studies revealed a significant reduction in RRP12 protein and abnormal nucleolar morphology in patient'derived fibroblasts. Consistent with its essential role in RNA metabolism, rrp12 knockdown in zebrafish caused severe developmental delay, crimping, and early lethality. All the brain MRI calcifications were detected postnatally and the earliest MRI was at 2 weeks in one Pakistani patient at seizure onset,which was reportred normal, and calficications were were first detected at 2y. PMID: 42144846 reports a Chinese patient with cerebellar ataxia onset at 21y with SN hearing loss with basal ganglia calcification and cerebellar atrophy who is homozygous for an RRP12 splice-site variant (absent from gnomAd). No prenatal phenotype apparent or reported.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939; Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939
  • Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452
OMIM
617723
Clinvar variants
Variants in RRP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: RRP12 was added gene: RRP12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRP12 were set to 42144846; 41059649 Phenotypes for gene: RRP12 were set to basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939; Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452