| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebral Palsy v1.193 | AHDC1 | Clare van Eyk reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Xia-Gibbs syndrome, MIM#615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Marked gene: AHDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Classified gene: AHDC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | AHDC1 |
Luisa Weiss gene: AHDC1 was added gene: AHDC1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to 33528536 Phenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM#615829 Review for gene: AHDC1 was set to GREEN Added comment: 3 individuals in CP cohort with mono-allelic de novo variants (2 frameshift, 1 6-AA-deletion). Other ADHC1 frameshift mutations have been known to cause an early onset neurological disorder with absent or poor expressive language, obstructive sleep apnea and brain abnormalities. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||