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DDG2P

Gene: ATP7A

Green List (high evidence)
ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMIDs: 19153371;20170900). The DDG2P confidence category for the disease MENKES DISEASE, OMIM:309400 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMIDs: 9894833;8812725;11431706;9246006;8149649;17108763;15372525;7842019;10739752;14635105;12221109;19194885).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
MENKES DISEASE, OMIM:309400; SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP7A were updated from 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 to 8149649; 11431706; 15372525; 19194885; 9246006; 17108763; 20170900; 10739752; 14635105; 9894833; 12221109; 19153371; 7842019; 8812725

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MENKES DISEASE 309400 for gene: ATP7A Publications for gene ATP7A were changed from 20170900; 19153371 to 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ATP7A was added gene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006 Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150