| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3955 | Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3955 | SOX3_PHPX_GCN |
Bryony Thompson STR: SOX3_PHPX_GCN was added STR: SOX3_PHPX_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list paediatric-onset tags were added to STR: SOX3_PHPX_GCN. Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509 Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||