| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Microcephaly v1.335 | DMRTA2 | Zornitza Stark Marked gene: DMRTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.335 | DMRTA2 | Zornitza Stark Gene: dmrta2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.335 | DMRTA2 |
Zornitza Stark gene: DMRTA2 was added gene: DMRTA2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: DMRTA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRTA2 were set to 40541527; 26757254 Phenotypes for gene: DMRTA2 were set to Microcephaly, MONDO:0001149, DMRTA2-related Review for gene: DMRTA2 was set to RED Added comment: Single family reported with three affected siblings and bi-allelic LoF variant. Newly published functional data but no further reports. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||