Ectodermal dysplasia
Gene: RPL21

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.

Created: 24 Jan 2017, 4:39 p.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.42

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

Created: 21 Jan 2017, 11:35 a.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.2

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

21412954

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)

Ectodermal dysplasia Gene: RPL21