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  3. RPL21
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Non-syndromic hypotrichosis

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

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: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • HYPT12
  • Hypotrichosis 12, 615885
OMIM
603636
Clinvar variants
Variants in RPL21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

24 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

24 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene RPL21 were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); HYPT12; Hypotrichosis 12, 615885;

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RPL21 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

RPL21 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPL21 was created by rfoulger

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPL21 was added to Non-syndromic hypotrichosispanel. Sources: Other