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  3. ABCA12
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Familial cicatricial alopecia

Gene: ABCA12

Red List (low evidence)
ABCA12 (ATP binding cassette subfamily A member 12)
EnsemblGeneIds (GRCh38): ENSG00000144452
EnsemblGeneIds (GRCh37): ENSG00000144452
OMIM: 607800, Gene2Phenotype
ABCA12 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 ABCA12.
Created: 13 Jul 2017, 1:36 p.m.
Created: 13 Jul 2017, 1:36 p.m.

Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia
OMIM
607800
Clinvar variants
Variants in ABCA12
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

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277; Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Some affected persons exhibit scarring alopecia

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ABCA12 was added to Familial cicatricial alopeciapanel. Sources: Other

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ABCA12 was created by rfoulger