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| Arthrogryposis v0.341 | COASY |
Ain Roesley changed review comment from: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers. c.1486-3C>G is the variant identified in all families; to: 5 more families with PCH and arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers. c.1486-3C>G is the variant identified in all families |
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| Arthrogryposis v0.341 | COASY | Ain Roesley Publications for gene: COASY were set to 30089828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.341 | COASY | Ain Roesley Classified gene: COASY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.341 | COASY | Ain Roesley Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.340 | COASY |
Ain Roesley changed review comment from: 5 more families. But 1 family did not have the affecteds sequenced, presumed homozygous as parents are carriers. arthrogryposis reported in 4 families c.1486-3C>G is the variant identified in all families; to: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers. c.1486-3C>G is the variant identified in all families |
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| Arthrogryposis v0.340 | COASY | Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.96 | COASY | Zornitza Stark Marked gene: COASY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.96 | COASY | Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.96 | COASY | Zornitza Stark Classified gene: COASY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.96 | COASY | Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.95 | COASY |
Zornitza Stark gene: COASY was added gene: COASY was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 30089828 Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia; microcephaly; arthrogryposis Review for gene: COASY was set to AMBER Added comment: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA. Sources: Expert list |
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