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  3. RPL35
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Fetal anomalies

Gene: RPL35

Red List (low evidence)
RPL35 (ribosomal protein L35)
EnsemblGeneIds (GRCh38): ENSG00000136942
EnsemblGeneIds (GRCh37): ENSG00000136942
RPL35 is in 2 panels

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

Louise Carr (North Thames Genomic Medicine Service)

Red List (low evidence)

[consistency check - other Diamond Blackfan genes are on panel]. A paper (PMID: 28280134) identified a family with nonsynonymous variant (p.K77N) in RPL35. A mother and daughter with Diamond-Blackfan anemia-19 had a heterozygous mutation in the RPL35 gene resulting in a lys77 to asn substitution. This variant was not found in other genomic databases. In the family no other DBA-associated ribosomal gene or other ribosomal genes that segregated with disease. Presenting clinical phenotype includes the mother and daughter, the mother presented with anemia at age 2 months and the daughter presented with anemia at age 1 month. The mother has spontaneous remission at 18 years old with no known relapse. Bone marrow evaluation at 3 months of age showed characteristic erythroid hypoplasia consistent with DBA. The daughter has steroid responsive anemia at 1 month, at 7 weeks she showed marked erythroid hypoplasia consistent with congenital hypoplastic anemia (DBA). She developed ulcerative colitis at 15 years old. WES revealed a heterozygous variant in RPL35, p.K77N, predicate to be damaging.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 19. OMIM:618312

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Diamond-Blackfan anemia 19. OMIM:618312
Clinvar variants
Variants in RPL35
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: RPL35 was added gene: RPL35 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL35 were set to 28280134 Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19. OMIM:618312