1. Panels
  2. TEST Undiagnosed metabolic disorders
  3. ABCD4
Genes in panel
Prev Next

TEST Undiagnosed metabolic disorders

Gene: ABCD4

Green List (high evidence)
ABCD4 (ATP binding cassette subfamily D member 4)
EnsemblGeneIds (GRCh38): ENSG00000119688
EnsemblGeneIds (GRCh37): ENSG00000119688
OMIM: 603214, Gene2Phenotype
ABCD4 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: ABCD4 was added gene: ABCD4 was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature,Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635