| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arthrogryposis v0.62 | ASCC1 | Zornitza Stark Marked gene: ASCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.62 | ASCC1 | Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.62 | ASCC1 | Zornitza Stark Classified gene: ASCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.62 | ASCC1 | Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.61 | ASCC1 |
Elena Savva gene: ASCC1 was added gene: ASCC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 28218388; 30327447; 26924529 Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867 Review for gene: ASCC1 was set to GREEN Added comment: PMID: 28218388 - 1 Portuguese child with a homozygous PTC and mild arthrogryposis, and ongenital generalized hypotonia, lack of spontaneous movements and atrophic muscle fibres. Papers reviews another report (PMID: 26924529) where the Turkish patient also had arthrogryposis and the same homozygous PTC PMID: 30327447 - 3 unrelated families with severe prenatal onset muscle weakness, neonatal hypotonia and arthrogryposis. All families had biallelic PTCs, where one family was homozygous and another compound heterozygous for the recurring p.Glu53fs*19 mutation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||