Limb disorders

Gene: RPL17

Red List (low evidence)

Comment on list classification: As there is only one family reported with skeletal abnormalities, this gene can only be rated red on this panel with the current evidence.

Created: 19 Jun 2025, 5:18 p.m. | Last Modified: 19 Jun 2025, 5:18 p.m.

Panel Version: 7.4

PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

Created: 19 Jun 2025, 5:13 p.m. | Last Modified: 19 Jun 2025, 5:13 p.m.

Panel Version: 4.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia, MONDO:0015253

Publications

• 39088281

Green List (high evidence)

PMID: 39088281 described 2 families with Diamond-Blackfan anemia & functional data. Enough evidence for the green rating.
probably gene should be added also to other panels (like limb disorders; hematological malignancies).
Sources: Literature

Created: 16 Dec 2024, 7:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia

Publications

• 39088281