| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | RPL10 | Seb Lunke Marked gene: RPL10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | RPL10 | Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | RPL10 | Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | RPL10 | Seb Lunke Added comment: Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | RPL10 | Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | RPL10 |
Sarah Righetti changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722. Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722. Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376). Given the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.63 | RPL10 | Seb Lunke Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35 (MIM#300998) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.62 | RPL10 | Seb Lunke Classified gene: RPL10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.62 | RPL10 | Seb Lunke Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.62 | RPL10 | Seb Lunke Gene: rpl10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.61 | RPL10 | Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.61 | RPL10 | Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | RPL10 | Sarah Righetti reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 16940977, 21567917, 23871722; Phenotypes: {Autism, susceptibility to, X-linked 5}, MIM #300847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 |
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