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| Hereditary Spastic Paraplegia - paediatric v1.2 | DDHD2 | Zornitza Stark Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, MIM# 615033 to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.1 | DDHD2 |
Zornitza Stark changed review comment from: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. Sources: Expert list; to: More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. Sources: Expert list |
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| Hereditary Spastic Paraplegia - paediatric v1.1 | DDHD2 | Zornitza Stark edited their review of gene: DDHD2: Changed publications: 23486545, 24482476, 23176823, 31302745; Changed phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.20 | DDHD2 | Zornitza Stark Marked gene: DDHD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.20 | DDHD2 | Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.20 | DDHD2 | Zornitza Stark Classified gene: DDHD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.20 | DDHD2 | Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.19 | DDHD2 |
Zornitza Stark gene: DDHD2 was added gene: DDHD2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823 Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033 Review for gene: DDHD2 was set to GREEN Added comment: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. Sources: Expert list |
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