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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATP7A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Menkes disease, 309400 (3) | Occipital horn syndrome, 304150 (3) | Spinal muscular atrophy, distal, X-linked 3, 300489 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATP7A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489 for gene: ATP7A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ATP7A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ATP7A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ATP7A was added gene: ATP7A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ATP7A was set to