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  3. RPL27
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Bone Marrow Failure

Gene: RPL27

Red List (low evidence)
RPL27 (ribosomal protein L27)
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual reported only.
Created: 5 Mar 2021, 10:03 a.m. | Last Modified: 5 Mar 2021, 10:03 a.m.
Panel Version: 0.177

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 16, MIM# 617408

Publications

Created: 5 Mar 2021, 10:03 a.m.
Last Modified: 5 Mar 2021, 10:03 a.m.
Panel version: 0.177

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408
OMIM
607526
Clinvar variants
Variants in RPL27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl27 has been classified as Red List (Low Evidence).

5 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408

5 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL27 were set to

5 Mar 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl27 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL27 was added gene: RPL27 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPL27 was set to Unknown