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  2. Familial cicatricial alopecia
  3. TSPYL2
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Familial cicatricial alopecia

Gene: TSPYL2

Red List (low evidence)
TSPYL2 (TSPY like 2)
EnsemblGeneIds (GRCh38): ENSG00000184205
EnsemblGeneIds (GRCh37): ENSG00000184205
OMIM: 300564, Gene2Phenotype
TSPYL2 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Kept rating as Red: No direct evidence for role of TSPYL2 in scarring alopecia.
Created: 13 Jul 2017, 7:07 a.m.
Familial discoid lupus erythematosus (DLE) is a cause of scarring (cicatricial) alopecia (PMID:18715293). TSPYL2 was first cloned from a cDNA library from a patient with DLE (PMID:11395479).
Created: 13 Jul 2017, 7:07 a.m.
Created: 13 Jul 2017, 7:07 a.m.

Panel version: 0.20

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
OMIM
300564
Clinvar variants
Variants in TSPYL2
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.

13 Jul 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).

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TSPYL2 was created by rfoulger

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TSPYL2 was added to Familial cicatricial alopeciapanel. Sources: Other