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| Brain Calcification v1.97 | AP1S2 | Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.97 | AP1S2 | Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.97 | AP1S2 | Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | AP1S2 | Yetong Chen edited their review of gene: AP1S2: Changed publications: 17617514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | AP1S2 |
Yetong Chen changed review comment from: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification. PMID 19161147 reports 8 individuals from 2 interrelated Omani families who developed brain calcification.; to: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification. |
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| Brain Calcification v1.26 | AP1S2 | Zornitza Stark Publications for gene: AP1S2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | AP1S2 |
Yetong Chen changed review comment from: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification.; to: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification. PMID 19161147 reports 8 individuals from 2 interrelated Omani families who developed brain calcification. |
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| Brain Calcification v1.22 | AP1S2 | Yetong Chen reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19161147, 17617514; Phenotypes: Pettigrew syndrome, Fried syndrome, PG5; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.6 | AP1S2 | Zornitza Stark Marked gene: AP1S2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.6 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.6 | AP1S2 | Zornitza Stark Classified gene: AP1S2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.6 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.5 | AP1S2 |
Zornitza Stark gene: AP1S2 was added gene: AP1S2 was added to Brain calcification_VCGS. Sources: Expert list Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340 Review for gene: AP1S2 was set to GREEN Added comment: Iron and calcium deposition in the brain is a feature of this condition. Sources: Expert list |
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