| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v0.131 | PURA | Zornitza Stark Marked gene: PURA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.131 | PURA | Zornitza Stark Gene: pura has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.131 | PURA | Zornitza Stark Classified gene: PURA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.131 | PURA | Zornitza Stark Gene: pura has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.129 | PURA |
Clare van Eyk gene: PURA was added gene: PURA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PURA were set to PMID: 34077496 Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Review for gene: PURA was set to GREEN Added comment: PURA loss of function and missense variants cause a clinically variable neurodevelopmental disorder with movement disorders including dystonia and limb spasticity described in some individuals. One case with a novel frameshift deletion described with dyskinetic cerebral palsy and intellectual disability. An additional 3 cases with de novo variants (1 nonsense, 2 missense) reported in a retrospective analysis of a Clinical Laboratory referral cohort with cerebral palsy. Sources: Literature |
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| Cerebral Palsy v0.33 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROC were set to 31700678; 20187890 Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304 Review for gene: PROC was set to AMBER Added comment: Bi-allelic PROC variants described in 2 families presenting as complex CP. Other features such as purpura fulminans may be present depending on severity. Sources: Literature |
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