| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arthrogryposis v5.9 | FILIP1 |
Simon Thomas gene: FILIP1 was added gene: FILIP1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to PubMed: 36344539; PubMed: 36943452; PMID: 37163662 Phenotypes for gene: FILIP1 were set to neurodevelopmental delay; arthrogryposis; muscular hypotonia; mild learning difficulties Penetrance for gene: FILIP1 were set to unknown Review for gene: FILIP1 was set to GREEN Added comment: FILIP1 is not an OMIM Morbid gene. All variants submitted to ClinVar are missense variants of uncertain clinical significance and there are only 3 variants recorded in HDMDPro as?DM. However, two publications in 2023 have established a gene-disease association in 7 unrelated families. All were consanguineous and had a homozygous FILIP1 variant (5 x LoF and 2 x missense). There is also a mouse model (PMID: 29618024). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | DMD | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | DMD | Alice Gardham marked DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | DMD | Alice Gardham classified DMD as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | DMD | Alice Gardham commented on DMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||