Inherited white matter disorders

Gene: ATP7A

Red List (low evidence)

ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:01 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

White matter changes are a well-described feature of this metabolic disorder.
Created: 7 Sep 2018, 7:16 a.m.

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

Phenotypes
Menkes disease, MIM#309400

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atp7a has been classified as Red List (Low Evidence).

7 Sep 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ATP7A was added to Inherited white matter disorders panel. Sources: Expert list

7 Sep 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ATP7A was created by Zornitza Stark