Metal Metabolism Disorders
Gene: ATP7A
ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 22 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of copper metabolism
- Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Hair disorders
- Prepair 1000+
- Cutis Laxa
- BabyScreen+ newborn screening
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP7A was added gene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green 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 20170900, 33137485, 31969342, 31558336 Phenotypes for gene: ATP7A were set to Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)