Hair disorders
Gene: RPL21
RPL21 (ribosomal protein L21)
EnsemblGeneIds (GRCh38): ENSG00000122026
EnsemblGeneIds (GRCh37): ENSG00000122026
OMIM: 603636, Gene2Phenotype
RPL21 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000122026
EnsemblGeneIds (GRCh37): ENSG00000122026
OMIM: 603636, Gene2Phenotype
RPL21 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: No supporting publications since the original in 2011.Created: 29 Jul 2020, 2:15 a.m. | Last Modified: 29 Jul 2020, 2:15 a.m.
Panel Version: 0.18
2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed.
Sources: NHS GMSCreated: 29 Jul 2020, 2:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 12 MIM#615885
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Hypotrichosis 12 MIM#615885
- OMIM
- 603636
- Clinvar variants
- Variants in RPL21
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rpl21 has been classified as Red List (Low Evidence).
29 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rpl21 has been classified as Red List (Low Evidence).
29 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPL21 was added gene: RPL21 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL21 were set to 21412954 Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885 Review for gene: RPL21 was set to AMBER