| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v0.640 | ATN1 | Zornitza Stark Marked gene: ATN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.640 | ATN1 | Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.640 | ATN1 | Zornitza Stark Classified gene: ATN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.640 | ATN1 | Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.639 | ATN1 |
Zornitza Stark gene: ATN1 was added gene: ATN1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATN1 were set to 34212383 Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM# 618494 Review for gene: ATN1 was set to GREEN Added comment: Nine individuals reported with de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1 and presenting with 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA)' syndrome, distinct from dentatorubral-pallidoluysian atrophy (DRPLA) secondary to expansion variants in exon 5 of ATN1. Arthrogryposis is a feature. Sources: Literature |
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