TEST Undiagnosed metabolic disorders
Gene: ABCB7

ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

TEST
Created: 20 Aug 2019, 12:58 p.m. | Last Modified: 20 Aug 2019, 12:58 p.m.

Panel Version: 1.2

Created: 20 Aug 2019, 12:58 p.m.
Last Modified: 20 Aug 2019, 12:58 p.m.
Panel version: 1.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Literature

OMIM

300135

Clinvar variants

Variants in ABCB7

Penetrance

None

Publications

27604308

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: ABCB7 was added gene: ABCB7 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCB7 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: ABCB7