| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.23 | ACP5 | Zornitza Stark Phenotypes for gene: ACP5 were changed from Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.23 | ACP5 | Zornitza Stark Phenotypes for gene: ACP5 were changed from Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | ACP5 | Zornitza Stark edited their review of gene: ACP5: Changed phenotypes: Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | ACP5 |
Yetong Chen changed review comment from: PMID 21217755 reports 4 unrelated individuals with ACP5 variants who developed intracranial calcification. PMID 21217752 reports 4 individuals with ACP5 variants who developed brain calcification.; to: PMID 21217755 reports 4 unrelated individuals with ACP5 variants who developed intracranial calcification. PMID 21217752 reports 4 individuals with ACP5 variants who developed brain calcification. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | ACP5 | Yetong Chen reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24372060, 21217755; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation, SPENCDI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.20 | ACP5 | Zornitza Stark Marked gene: ACP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.20 | ACP5 | Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.20 | ACP5 | Zornitza Stark Classified gene: ACP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.20 | ACP5 | Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.19 | ACP5 |
Zornitza Stark gene: ACP5 was added gene: ACP5 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217755; 21217752 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia Review for gene: ACP5 was set to GREEN Added comment: Established gene-disease association, intracranial calcification is part of the phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||