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| Cerebral Palsy v1.186 | ADNP | Zornitza Stark Classified gene: ADNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.186 | ADNP | Zornitza Stark Gene: adnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.185 | ADNP | Luisa Weiss edited their review of gene: ADNP: Added comment: In addition to the previous cases, there is one case report of a boy with the full phenotypic picture of Helsmoortel-van der Aa syndrome and hypotonic cerebral palsy. Note that hypotonia is one feature of Helsmoortel-van der Aa syndrome, but hypotonic cerebral palsy seems to be rare.; Changed rating: GREEN; Changed publications: 29780943; Changed phenotypes: Helsmoortel-van der Aa syndrome MIM#615873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Marked gene: ADNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Gene: adnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Classified gene: ADNP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Gene: adnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | ADNP |
Luisa Weiss gene: ADNP was added gene: ADNP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to 33528536 Phenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome MIM#615873 Review for gene: ADNP was set to AMBER Added comment: Large cohort study of cerebral palsy cases identified two variants in two individual patients with CP. One mutation was a recurrent Helsmoortel-van der Aa-syndrome nonsense mutation, the other was a de novo frameshift mutation. No further information about the patient's phenotype was given. Sources: Literature |
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