ATP7A

ATPase copper transporting alpha
OMIM: 300011, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red ATP7A in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.55
Latest signed off version: v2.2 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease

Amber ATP7A in Neuromuscular disorders


Version 5.212
Latest signed off version: v5.43 (4 Mar 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Menkes disease, 309400
  • Occipital horn syndrome, 304150
  • Spinal muscular atrophy, distal, X-linked 3, 300489

Red ATP7A in White matter disorders and cerebral calcification - narrow panel


Version 1.189
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • Menkes disease, MIM#309400

    Red ATP7A in Pneumothorax - familial

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 2.37
    Latest signed off version: v2.17 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Menkes Disease

    Amber ATP7A in Rare genetic inflammatory skin disorders


    Version 1.38
    Latest signed off version: v1.6 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber

    Red ATP7A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Menkes disease, MIM#309400

    Red ATP7A in Thoracic aortic aneurysm and dissection


    Version 1.15
    Latest signed off version: v1.2 (19 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • South West GLH
    • South West GLH

    Red ATP7A in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.121

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • Expert list

    Green ATP7A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.108
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Spinal muscular atrophy, distal, 300489
    • Menkes disease 309400
    • Occipital horn syndrome 304150

    Green ATP7A in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.469

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Menkes disease 309400
    • Occipital horn syndrome 304150
    • Spinal muscular atrophy, distal, X-linked 3 300489
    Tags
    • treatable

    Green ATP7A in Inborn errors of metabolism


    Version 2.154
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Menkes disease

    Green ATP7A in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.60
    Latest signed off version: v2.3 (4 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Occipital horn syndrome, OMIM:304150

    Green ATP7A in Fetal anomalies


    Version 1.691
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENKES DISEASE
    • OCCIPITAL HORN SYNDROME
    • SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3

    Amber ATP7A in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Menkes disease, OMIM:309400
    • Occipital horn syndrome, OMIM:304150
    • Spinal muscular atrophy, distal, X-linked 3, OMIM:300489

    Green ATP7A in DDG2P


    Version 2.39
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489
    • OCCIPITAL HORN SYNDROME 304150
    • MENKES DISEASE 309400

    Green ATP7A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.388

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Hereditary Neuropathies

    Green ATP7A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.396
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Menkes disease 309400

    Green ATP7A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1201
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
    • OCCIPITAL HORN SYNDROME

    Green ATP7A in Hereditary neuropathy NOT PMP22 copy number


    Version 1.30
    Latest signed off version: v1.2 (27 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies

    Red ATP7A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green ATP7A in Severe Paediatric Disorders


    Version 1.81

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, distal, X-linked 3, 300489
    • Menkes disease, 309400
    • Occipital horn syndrome, 304150