Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.817 | MED25 | Zornitza Stark Phenotypes for gene: MED25 were changed from Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.722 | MED25 | Marta Cifuentes Ochoa reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121, 25527630, 30800049, 32324310, 19290556; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.322 | GATM | Marta Cifuentes Ochoa reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11555793, 27604308; Phenotypes: Cerebral creatine deficiency syndrome 3 MIM#612718, AGAT deficiency MONDO:0012996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.189 | BTK | Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.159 | BTK | Marta Cifuentes Ochoa reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 31481959, 15024743, 34182127, 16951917; Phenotypes: Agammaglobulinemia, X-linked 1 MIM#300755, Bruton-type agammaglobulinemia MONDO:0010421, Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.36 | AGA | Lilian Downie Marked gene: AGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.36 | AGA | Lilian Downie Gene: aga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.36 | AGA | Lilian Downie Publications for gene: AGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.9 | AGA | Lana Giameos reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | NAGA | Seb Lunke Added phenotypes Schindler disease, type I, 609241 (3) for gene: NAGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | BTK | Seb Lunke Added phenotypes Agammaglobulinemia and isolated hormone deficiency, 307200 (3) for gene: BTK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | AGA | Seb Lunke Added phenotypes Aspartylglucosaminuria, 208400 (3) for gene: AGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | IGHM | Zornitza Stark Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | IGHM | Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | IGHM | Crystle Lee reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12370281, 8890099; Phenotypes: Agammaglobulinemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | IGHM |
Zornitza Stark gene: IGHM was added gene: IGHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||