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  3. ABCD3
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Peroxisomal Disorders

Gene: ABCD3

Red List (low evidence)
ABCD3 (ATP binding cassette subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000117528
EnsemblGeneIds (GRCh37): ENSG00000117528
OMIM: 170995, Gene2Phenotype
ABCD3 is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Single patient reported in 2015. Evidence of a bile acid biosynthesis defect in both patient and knock out mice.
Created: 20 Jul 2020, 1:51 a.m. | Last Modified: 20 Jul 2020, 1:51 a.m.
Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bile acid synthesis defect, congenital, 5 (MIM#616278)

Publications

Created: 20 Jul 2020, 1:51 a.m.
Last Modified: 20 Jul 2020, 1:51 a.m.
Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)
OMIM
170995
Clinvar variants
Variants in ABCD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcd3 has been classified as Red List (Low Evidence).

20 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCD3 were changed from to Bile acid synthesis defect, congenital, 5 (MIM#616278)

20 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCD3 were set to

20 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcd3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCD3 was added gene: ABCD3 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCD3 was set to Unknown