Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | FBN1 |
Melissa Connolly changed review comment from: Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of SS without typical syndromic features. Hotspots listed as exons 41 and 42 Sources: Expert Review; to: Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of SS without typical syndromic features. Hotspots listed as exons 41 and 42 Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | FBN1 |
Melissa Connolly gene: FBN1 was added gene: FBN1 was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to PMID: 41543979 Phenotypes for gene: FBN1 were set to ACROMICRIC DYSPLASIA; GELEOPHYSIC DYSPLASIA 2; STIFF SKIN SYNDROME; WEILL-MARCHESANI SYNDROME 2 Penetrance for gene: FBN1 were set to Complete Mode of pathogenicity for gene: FBN1 was set to Other Review for gene: FBN1 was set to GREEN Added comment: Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of SS without typical syndromic features. Hotspots listed as exons 41 and 42 Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||