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  3. RPL35A
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Diamond Blackfan anaemia

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: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 5, MIM# 612528
Tags
SV/CNV
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 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).

5 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528

5 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL35A were set to

5 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL35A was added gene: RPL35A was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPL35A was set to Unknown