Cutis Laxa
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 22 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Connective tissue laxity is a prominent part of the phenotype.
Sources: Expert listCreated: 28 Nov 2019, 9:50 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- GeneReviews
- Expert list
- Phenotypes
-
- Occipital horn syndrome, MIM#304150
- Menkes disease, MIM#309400
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- None
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP7A were changed from Occipital horn syndrome MIM#304150 to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP7A was added gene: ATP7A was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Occipital horn syndrome MIM#304150