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| Cerebral Palsy v1.367 | CLN6 |
Clare van Eyk gene: CLN6 was added gene: CLN6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN6 were set to PMID: 39213953 Phenotypes for gene: CLN6 were set to Neuronal Ceroid Lipofuscinosis 6, MIM#601780 Review for gene: CLN6 was set to RED Added comment: Single individual with compound heterozygous LP/P variants in CLN6 reported in a monocentric cohort study (PMID: 39213953). Patient reported to have progressive dystonia, developmental regression, DD, ID, with initial diagnosis of CP. Sources: Literature |
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| Cerebral Palsy v1.312 | SYNE1 | Zornitza Stark Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.267 | FUS | Zornitza Stark Marked gene: FUS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.267 | FUS | Zornitza Stark Gene: fus has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.267 | FUS | Zornitza Stark Classified gene: FUS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.267 | FUS | Zornitza Stark Gene: fus has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | FUS |
Clare van Eyk gene: FUS was added gene: FUS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FUS were set to PMID: 38693247 Phenotypes for gene: FUS were set to Essential tremor, MIM#614782 Review for gene: FUS was set to RED Added comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Sources: Literature |
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| Cerebral Palsy v1.186 | SYNE1 | Zornitza Stark reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type MIM#618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998, Spinocerebellar ataxia, autosomal recessive 8 MIM#610743; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SYNE1 |
Luisa Weiss gene: SYNE1 was added gene: SYNE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 34321325; 34816117 Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Review for gene: SYNE1 was set to AMBER Added comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations. Sources: Literature |
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