Familial cicatricial alopecia

Gene: GJB2

Red List (low evidence)

GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Scarring alopecia listed in OMIM clinical synopsis for HID syndrome (MIM:602540) but no further evidence for the role of GJB2 in scarring/cicatricial alopecia.
Created: 13 Jul 2017, 2:39 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • HID syndrome
  • Scarring alopecia
OMIM
121011
Clinvar variants
Variants in GJB2
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

Added New Source

Rebecca Foulger (Genomics England curator)

GJB2 was added to Familial cicatricial alopeciapanel. Sources: Other

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GJB2 was created by rfoulger