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| Cerebral Palsy v1.195 | CYP2U1 | Zornitza Stark Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | CYP2U1 | Clare van Eyk reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.113 | CYP2U1 | Zornitza Stark Marked gene: CYP2U1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.113 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.113 | CYP2U1 | Zornitza Stark Classified gene: CYP2U1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.113 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.111 | CYP2U1 |
Danielle Ariti changed review comment from: Single case reported in CP cohort (bi-allelic c.A947T variant). SPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. Sources: Expert list; to: Single case reported in CP cohort (bi-allelic p.D316V variant). SPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. Sources: Expert list |
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| Cerebral Palsy v0.111 | CYP2U1 |
Danielle Ariti gene: CYP2U1 was added gene: CYP2U1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821 Phenotypes for gene: CYP2U1 were set to Cerebral Palsy; Spastic paraplegia 56, autosomal recessive MIM# 615030 Review for gene: CYP2U1 was set to GREEN Added comment: Single case reported in CP cohort (bi-allelic c.A947T variant). SPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. Sources: Expert list |
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