| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Marked gene: AP1S2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Phenotypes for gene: AP1S2 were changed from spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition to Pettigrew syndrome, MIM# 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.23 | AP1S2 | Zornitza Stark Classified gene: AP1S2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.23 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | AP1S2 | Zornitza Stark reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | AP1S2 |
Shekeeb Mohammad gene: AP1S2 was added gene: AP1S2 was added to Neuroferritinopathies. Sources: Expert list,Literature Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 23756445 Phenotypes for gene: AP1S2 were set to spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition Penetrance for gene: AP1S2 were set to Complete Review for gene: AP1S2 was set to GREEN Added comment: Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||