| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.296 | ABCD1 | Zornitza Stark Marked gene: ABCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.296 | ABCD1 | Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.296 | ABCD1 | Zornitza Stark Classified gene: ABCD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.296 | ABCD1 | Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.294 | ABCD1 |
Clare van Eyk gene: ABCD1 was added gene: ABCD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ABCD1 were set to PMID: 38693247 Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100 Review for gene: ABCD1 was set to RED Added comment: 1 male with hemizygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variable age of onset, even within same family. Heterozygous females may develop spastic paraparesis with bowel and bladder difficulties. Sources: Literature |
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