Leukodystrophy - paediatric
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination.
Sources: Expert listCreated: 18 Jan 2020, 1:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Menkes disease, 309400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Menkes disease, 309400
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ATP7A.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp7a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp7a has been classified as Green List (High Evidence).
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 Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7A were set to 26937406; 21924848; 29789304 Phenotypes for gene: ATP7A were set to Menkes disease, 309400 Review for gene: ATP7A was set to GREEN