Cerebral Palsy
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 22 panels
1 review
Luisa Weiss (University of Adelaide)
3 individuals from 3 different publications with CP. Two patients were male with de novo splice affecting mutations. One patient was female with a heterozygous de novo frameshift mutation in ATP7B causative for the disease as described before for Menkes disease.
Sources: LiteratureCreated: 22 May 2023, 5:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Menkes disease MIM#3094009
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Menkes disease MIM#3094009
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ATP7A was added gene: ATP7A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATP7A were set to 35322241; 33528536; 34788679 Phenotypes for gene: ATP7A were set to Menkes disease MIM#3094009 Review for gene: ATP7A was set to GREEN