Cytopenia - NOT Fanconi anaemia

Gene: RPL31

The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL31 should be amber.

Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:58 a.m.

Panel Version: 1.57

Comment on list classification: Current Green gene rating based on GMS specialist test group consensus. However, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association, which is only sufficient for an Amber rating at present. Will be flagged for review at the next GMS panel update (added 'for-review' tag).

Created: 14 Jan 2021, 11:42 a.m. | Last Modified: 14 Jan 2021, 11:42 a.m.

Panel Version: 1.35

I don't know

Three individuals reported: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS.

Created: 14 Sep 2020, 8:05 a.m. | Last Modified: 14 Sep 2020, 8:05 a.m.

Panel Version: 1.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anaemia

Publications

• 25042156
• 25424902

Green List (high evidence)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.

Created: 22 Jul 2019, 1:50 p.m. | Last Modified: 22 Jul 2019, 1:50 p.m.

Panel Version: 0.92

New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.

Created: 4 May 2019, 8:55 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL31; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: not submitted ; PMID(s): 25042156;25424902

Created: 6 Feb 2019, 3:13 p.m.

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 3:12 p.m.