| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.2146 | LRSAM1 | Seb Lunke Tag for review was removed from gene: LRSAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2093 | LRSAM1 | Seb Lunke Classified gene: LRSAM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2093 | LRSAM1 | Seb Lunke Added comment: Comment on list classification: Insufficient evidence for recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2093 | LRSAM1 | Seb Lunke Gene: lrsam1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2032 | LRSAM1 | Lilian Downie Marked gene: LRSAM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2032 | LRSAM1 | Lilian Downie Added comment: Comment when marking as ready: Only single AR family reported, insufficient evidence, downgrade to RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2032 | LRSAM1 | Lilian Downie Gene: lrsam1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2032 | LRSAM1 | Lilian Downie Publications for gene: LRSAM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1855 | LRSAM1 | Zornitza Stark Tag for review tag was added to gene: LRSAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1826 | LRSAM1 |
Melanie Marty changed review comment from: Only a single family reported with recessive inheritance. Over 30 families reported with dominant disease. Age of onset typically between the second and fifth decades of life. Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.; to: Only a single family reported with recessive inheritance. Over 30 families reported with dominant disease. Age of onset typically between the second and fifth decades of life. Peak age of onset in second decade (range childhood to 76 years) (OMIM). Marking as red for carrier screening due to age of onset and limited evidence for recessive disease. |
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| Prepair 1000+ v1.1826 | LRSAM1 |
Melanie Marty changed review comment from: Only a single family reported with recessive inheritance. Over 30 families reported with dominant disease. Age of onset typically between the second and fifth decades of life.; to: Only a single family reported with recessive inheritance. Over 30 families reported with dominant disease. Age of onset typically between the second and fifth decades of life. Marking as red for carrier screening due to age of onset and limited evidence for recessive disease. |
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| Prepair 1000+ v1.1826 | LRSAM1 | Melanie Marty edited their review of gene: LRSAM1: Changed publications: 38330802, 33568173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1822 | LRSAM1 | Melanie Marty reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 38330802, 33568173; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | LRSAM1 |
Zornitza Stark gene: LRSAM1 was added gene: LRSAM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) |
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