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| Aortopathy_Connective Tissue Disorders v1.72 | ATP7A | Zornitza Stark Tag treatable tag was added to gene: ATP7A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.72 | ATP7A |
Zornitza Stark changed review comment from: Connective tissue laxity is a prominent part of the phenotype. Sources: Expert list; to: Connective tissue laxity is a prominent part of the phenotype. Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms. Sources: Expert list |
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| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Classified gene: ATP7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.1 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert list 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; Menkes disease, MIM#309400 Review for gene: ATP7A was set to GREEN Added comment: Connective tissue laxity is a prominent part of the phenotype. Sources: Expert list |
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