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Red cell disorders

Gene: RPL35A

Green List (high evidence)
RPL35A (ribosomal protein L35a)
EnsemblGeneIds (GRCh38): ENSG00000182899
EnsemblGeneIds (GRCh37): ENSG00000182899
OMIM: 180468, Gene2Phenotype
RPL35A is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 unrelated individuals reported. Large deletions common.
Created: 5 Mar 2021, 10:09 a.m. | Last Modified: 5 Mar 2021, 10:13 a.m.
Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 5, MIM# 612528

Publications

Created: 5 Mar 2021, 10:09 a.m.
Last Modified: 5 Mar 2021, 10:13 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 5, MIM# 612528
Tags
SV/CNV
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl35a has been classified as Green List (High Evidence).

16 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPL35A were changed from Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 5; Diamond-Blackfan anemia 5, 612528; 612528 Diamond-Blackfan anemia 5; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 5; 612528 Diamond_Blackfan Anemia 5; Diamond_Blackfan Anemia 5 to Diamond-Blackfan anaemia 5, MIM# 612528

16 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL35A were set to 18535205

16 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: RPL35A.

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 5; Diamond-Blackfan anemia 5, 612528; 612528 Diamond-Blackfan anemia 5; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 5; 612528 Diamond_Blackfan Anemia 5; Diamond_Blackfan Anemia 5 for gene: RPL35A

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL35A was added gene: RPL35A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL35A were set to 18535205 Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, 612528; Diamond_Blackfan Anemia 5; Diamond-Blackfan Anemia; 612528 Diamond_Blackfan Anemia 5; 612528 Diamond-Blackfan anemia 5; Diamond-Blackfan Anemia 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 5