Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prepair 500+ v0.0 | TF |
Seb Lunke gene: TF was added gene: TF was added to Prepair 500+. 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | MTFMT |
Seb Lunke gene: MTFMT was added gene: MTFMT was added to Prepair 500+. 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | LZTFL1 |
Seb Lunke gene: LZTFL1 was added gene: LZTFL1 was added to Prepair 500+. 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | ETFDH |
Seb Lunke gene: ETFDH was added gene: ETFDH was added to Prepair 500+. 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | ETFB |
Seb Lunke gene: ETFB was added gene: ETFB was added to Prepair 500+. 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | ETFA |
Seb Lunke gene: ETFA was added gene: ETFA was added to Prepair 500+. 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) |