| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hypertrichosis syndromes v0.3 | SETD5 | Zornitza Stark Marked gene: SETD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.3 | SETD5 | Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.3 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.3 | SETD5 | Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.2 | SETD5 | Zornitza Stark Publications for gene: SETD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.1 | SETD5 | Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.0 | SETD5 |
Zornitza Stark gene: SETD5 was added gene: SETD5 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SETD5 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||