| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia - paediatric v1.100 | DDHD1 |
Chirag Patel Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM# 609340; MONDO:0012256 to Hereditary spastic paraplegia 28, MONDO:0012256 Publications for gene DDHD1 were changed from 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 to 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.1 | DDHD1 | Zornitza Stark Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM# 609340 to Spastic paraplegia 28, autosomal recessive, MIM# 609340; MONDO:0012256 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.0 | DDHD1 | Zornitza Stark edited their review of gene: DDHD1: Changed phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.18 | DDHD1 | Zornitza Stark Marked gene: DDHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.18 | DDHD1 | Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.18 | DDHD1 | Zornitza Stark Classified gene: DDHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.18 | DDHD1 | Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.17 | DDHD1 |
Zornitza Stark gene: DDHD1 was added gene: DDHD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to 23176821 Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, MIM# 609340 Review for gene: DDHD1 was set to GREEN Added comment: At least three unrelated families reported, childhood onset. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||