Ectodermal dysplasia
Gene: ALOXE3EnsemblGeneIds (GRCh38): ENSG00000179148
EnsemblGeneIds (GRCh37): ENSG00000179148
OMIM: 607206, Gene2Phenotype
ALOXE3 is in 8 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 ALOXE3.Created: 13 Jul 2017, 1:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Some affected persons exhibit scarring alopecia
- Ichthyosis, congenital, autosomal recessive 3, 606545
- OMIM
- 607206
- Clinvar variants
- Variants in ALOXE3
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ALOXE3 was added gene: ALOXE3 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 3, 606545