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| 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 | TF |
Zornitza Stark gene: TF was added gene: TF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTFMT |
Zornitza Stark gene: MTFMT was added gene: MTFMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LZTFL1 |
Zornitza Stark gene: LZTFL1 was added gene: LZTFL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ATF6 |
Zornitza Stark gene: ATF6 was added gene: ATF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive |
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