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  3. RPL35A
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Fetal anomalies

Gene: RPL35A

Green List (high evidence)
RPL35A (ribosomal protein L35a)
EnsemblGeneIds (GRCh38): ENSG00000182899
EnsemblGeneIds (GRCh37): ENSG00000182899
OMIM: 180468, Gene2Phenotype
RPL35A is in 8 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:28 p.m. | Last Modified: 1 Feb 2021, 4:28 p.m.
Panel Version: 1.532
Created: 1 Feb 2021, 4:28 p.m.
Last Modified: 1 Feb 2021, 4:28 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia
Created: 28 Jan 2021, 3:43 p.m. | Last Modified: 28 Jan 2021, 3:43 p.m.
Panel Version: 1.198

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond-Blackfan anemia 5

Created: 28 Jan 2021, 3:43 p.m.
Last Modified: 28 Jan 2021, 3:43 p.m.
Panel version: 1.198

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 5, OMIM:612528
  • Diamond-Blackfan anemia 5, MONDO:0012925
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: RPL35A.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RPL35A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5 612528 to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rpl35a has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: RPL35A.

8 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: RPL35A was added gene: RPL35A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5 612528