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| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Marked gene: AP4M1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Phenotypes for gene: AP4M1 were changed from progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition to Spastic paraplegia 50, autosomal recessive, MIM# 612936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.25 | AP4M1 | Zornitza Stark Classified gene: AP4M1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.25 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP4M1 | Zornitza Stark changed review comment from: Brain iron accumulation is not a consistent/common feature of this condition.; to: Brain iron accumulation is a rarely reported feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP4M1 | Zornitza Stark reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | AP4M1 |
Shekeeb Mohammad gene: AP4M1 was added gene: AP4M1 was added to Neuroferritinopathies. Sources: Literature,Expert list Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 29473051 Phenotypes for gene: AP4M1 were set to progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition Review for gene: AP4M1 was set to GREEN gene: AP4M1 was marked as current diagnostic Added comment: Sources: Literature, Expert list |
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