Ectodermal dysplasia

Gene: RPL21

Red List (low evidence)

RPL21 (ribosomal protein L21)
EnsemblGeneIds (GRCh38): ENSG00000122026
EnsemblGeneIds (GRCh37): ENSG00000122026
OMIM: 603636, Gene2Phenotype
RPL21 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Currently insufficient evidence to promote to Green.
Created: 26 Jan 2017, 1:23 p.m.
Comment on list classification: Kept rating as Red: Only 2 cases of RPL21 mutations reported in 2011 (PMID:21412954).
Created: 24 Jan 2017, 4:39 p.m.

Celia Moss (Birmingham Children's Hospital)

Red List (low evidence)

Reported in 2 large Chinese families 5-6 years ago. Rather surprising that nobody else has reported it since then.
Created: 21 Jan 2017, 11:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • HYPT12
  • Hypotrichosis 12, 615885
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
OMIM
603636
Clinvar variants
Variants in RPL21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RPL21 was added gene: RPL21 was added to Ectodermal dysplasia. Sources: Expert Review Red 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 HYPT12; Hypotrichosis 12, 615885; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)