Ectodermal dysplasia

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 7 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
OMIM
607800
Clinvar variants
Variants in ABCA12
Penetrance
None
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: ABCA12 was added gene: ABCA12 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 4A, 601277