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  2. Familial cicatricial alopecia
  3. CERS3
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Familial cicatricial alopecia

Gene: CERS3

Red List (low evidence)
CERS3 (ceramide synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000154227
EnsemblGeneIds (GRCh37): ENSG00000154227
OMIM: 615276, Gene2Phenotype
CERS3 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of CERS3.
Created: 13 Jul 2017, 1:37 p.m.
Created: 13 Jul 2017, 1:37 p.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
  • Some affected persons exhibit scarring alopecia
OMIM
615276
Clinvar variants
Variants in CERS3
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)

CERS3 was created by rfoulger

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CERS3 was added to Familial cicatricial alopeciapanel. Sources: Other