| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arthrogryposis v3.150 | ATP1A2 | Sarah Leigh Tag for-review was removed from gene: ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.150 | ATP1A2 | Sarah Leigh commented on gene: ATP1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.149 | ATP1A2 |
Sarah Leigh Source Expert Review Green was added to ATP1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.44 | ATP1A2 | Arina Puzriakova Classified gene: ATP1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.44 | ATP1A2 |
Arina Puzriakova Added comment: Comment on list classification: Two additional unrelated families reported by Chatron et al PMID: 31608932 with affected fetuses described as having polymicrogyria, microcephaly, polyhydramnios and FADS. Two individuals from one family also presented hand contractures and rocker-bottom feet, bringing the total to 3 unrelated families with relevant phenotype. As number of cases now reaches threshold for inclusion as diagnostic-grade, ATP1A2 should be promoted to Green at the next GMS panel update (added 'for-review' tag) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.44 | ATP1A2 | Arina Puzriakova Gene: atp1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.43 | ATP1A2 | Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.42 | ATP1A2 | Arina Puzriakova Tag for-review tag was added to gene: ATP1A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | ATP1A2 | Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | ATP1A2 | Rebecca Foulger Added comment: Comment on list classification: Rated as Amber: 2 unrelated families in PMID:30690204 with arthrogryposis amongst their postnatal phenotypes. Further cases required for diagnostic rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | ATP1A2 | Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.10 | ATP1A2 |
Rebecca Foulger gene: ATP1A2 was added gene: ATP1A2 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency Added comment: Added to panel based on PMID:30690204 (Monteiro et al., 2020) who describe 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found upon WES. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||