Hereditary Spastic Paraplegia - adult onset
Gene: ZFYVE27
A missense variant (p.Gly191Val) that was originally identified in a 5-generation German HSP family is too common in gnomAD v2.1 for dominant disease, 7.8% in the African population (86 homozygotes overall). Additional Two Chinese cases identified with rare variants. Functional evidence not strong support.Created: 19 Apr 2020, 11:47 a.m. | Last Modified: 19 Apr 2020, 11:47 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 33, autosomal dominant MIM#610244
Publications
Gene: zfyve27 has been classified as Red List (Low Evidence).
Phenotypes for gene: ZFYVE27 were changed from Spastic paraplegia 33, autosomal dominant to Spastic paraplegia 33, autosomal dominant, MIM#610244
Mode of inheritance for gene: ZFYVE27 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: zfyve27 has been classified as Red List (Low Evidence).
gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525 Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant