| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.2140 | AMN | Zornitza Stark Marked gene: AMN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2140 | AMN | Zornitza Stark Added comment: Comment when marking as ready: Treatable, relatively mild disorder, not suitable for inclusion on a reproductive carrier screen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2140 | AMN | Zornitza Stark Gene: amn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2140 | AMN | Zornitza Stark Classified gene: AMN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2140 | AMN | Zornitza Stark Gene: amn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2139 | AMN | Zornitza Stark Tag for review was removed from gene: AMN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2083 | AMN | Zornitza Stark Tag for review tag was added to gene: AMN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1811 | AGTR1 |
Andrew Coventry gene: AGTR1 was added gene: AGTR1 was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTR1 were set to 16116425; 22095942 Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis MIM#267430 Review for gene: AGTR1 was set to GREEN Added comment: Severe disorder of renal tubular development characterised by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Can cause stillbirth. Three unrelated families reported for AGTR1 variants. Other genes associated with this phenotype are included in 1000+. Sources: Literature |
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| Prepair 1000+ v1.1766 | STRADA | Zornitza Stark Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive to Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1611 | AMN | Lilian Downie Marked gene: AMN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1611 | AMN | Lilian Downie Added comment: Comment when marking as ready: Treatable disorder with good outcomes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1611 | AMN | Lilian Downie Gene: amn has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1611 | AMN | Lilian Downie Publications for gene: AMN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1568 | AMN | Andrew Coventry reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326, 27604308; Phenotypes: Imerslund-Grasbeck syndrome 2 MIM#618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1566 | STRADA | Andrew Coventry reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1 | AMN |
Crystle Lee gene: AMN was added gene: AMN was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 (MIM#618882) Review for gene: AMN was set to AMBER Added comment: Well established gene-disease association. Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Sources: Literature |
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| Prepair 1000+ v0.0 | STRADA |
Zornitza Stark gene: STRADA was added gene: STRADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive |
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