Ichthyosis
Gene: ABCA12

ABCA12 (ATP binding cassette subfamily A member 12)
EnsemblGeneIds (GRCh38): ENSG00000144452
EnsemblGeneIds (GRCh37): ENSG00000144452
OMIM: 607800, Gene2Phenotype
ABCA12 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 families reported, severity may correlate with consequence of mutations with bi-allelic truncating variants presenting with harlequin ichthyosis, and missense variants causing milder phenotypes.
Created: 29 Aug 2020, 8:03 a.m. | Last Modified: 29 Aug 2020, 8:03 a.m.

Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)

Created: 29 Aug 2020, 8:03 a.m.
Last Modified: 29 Aug 2020, 8:03 a.m.
Panel version: 0.97

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31168818;
- 17x probands with congenital ichthyosis + harlequin

PMID: 19664001;PMID: 31489029
- 2x probands with harlequin ichthynoisis
Created: 12 Aug 2020, 12:51 a.m. | Last Modified: 12 Aug 2020, 12:51 a.m.

Panel Version: 0.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)

Publications

Created: 12 Aug 2020, 12:51 a.m.
Last Modified: 12 Aug 2020, 12:51 a.m.
Panel version: 0.82

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)
Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)

OMIM

607800

Clinvar variants

Variants in ABCA12

Penetrance

None

Publications

Panels with this gene