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| Skeletal dysplasia v0.150 | GPX4 |
Ain Roesley changed review comment from: PMID: 24706940 2x families. The first, maternally inherited splice and a de novo splice The second is a consaguineous family was a hom nonsense but DNA from deceased infant and parents were sequenced PMID: 32827718 1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant; to: PMID: 24706940 2x families. The first, maternally inherited splice and a de novo splice The second is a consaguineous family was a hom nonsense but DNA from deceased infant was unavailable and parents were sequenced PMID: 32827718 1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant |
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| Skeletal dysplasia v0.150 | GPX4 | Zornitza Stark Marked gene: GPX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.150 | GPX4 | Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.150 | GPX4 | Zornitza Stark Phenotypes for gene: GPX4 were changed from Spondylometaphyseal dysplasia, Sedaghatian type 250220 to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.149 | GPX4 | Zornitza Stark Publications for gene: GPX4 were set to 24706940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.148 | GPX4 | Zornitza Stark Classified gene: GPX4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.148 | GPX4 | Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.147 | GPX4 | Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | GPX4 |
Zornitza Stark gene: GPX4 was added gene: GPX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940 Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220 |
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