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Inborn errors of metabolism

Gene: ATP7A

Green List (high evidence)

ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 20 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Copper treatment: PMID: 19194885.
Created: 10 Aug 2018, noon

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM and as a confirmed G2P for each condition. At least 8 variants reported in Menkes disease 309400, 6 in Occipital horn syndrome 304150 and 2 Spinal muscular atrophy, distal, X-linked 3 300489.
Created: 2 May 2017, 12:56 p.m.

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

Phenotypes
Unexplained skeletal dysplasia

Louise Daugherty (Genomics England Curator)

Added tag Treatable 02 May 2017
Created: 2 May 2017, 12:52 p.m.

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATP7A. Source London North GLH was added to ATP7A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATP7A was added gene: ATP7A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease