Ectodermal dysplasia

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.


Mode of Inheritance
  • Expert Review Red
  • discoid lupus erythematosus
Clinvar variants
Variants in TSPYL2
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TSPYL2 was added gene: TSPYL2 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: TSPYL2 was set to Unknown Phenotypes for gene: TSPYL2 were set to discoid lupus erythematosus