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Regression

Gene: ABCD1

Green List (high evidence)

ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive disorder, DEFINITIVE by ClinGen.
Created: 19 Apr 2024, 4:43 a.m. | Last Modified: 19 Apr 2024, 4:43 a.m.
Panel Version: 0.548

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
adrenoleukodystrophy (MONDO:0018544)

Publications

History Filter Activity

19 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcd1 has been classified as Green List (High Evidence).

19 Apr 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCD1 were changed from to adrenoleukodystrophy (MONDO:0018544)

19 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCD1 were set to

19 Apr 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCD1 was added gene: ABCD1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCD1 was set to Unknown