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| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | C5orf42 | Zornitza Stark Tag new gene name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | C5orf42 | Zornitza Stark commented on gene: C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | ADPRHL2 |
Edwin Kirk changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view. Note - I don't think I selected a rating when I entered the above, not certain if this matters. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC5A7 |
Zornitza Stark gene: SLC5A7 was added gene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC52A3 |
Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | C5orf42 |
Zornitza Stark gene: C5orf42 was added gene: C5orf42 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | C5 |
Zornitza Stark gene: C5 was added gene: C5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3) |
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