Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Prepair 1000+ v1.3 DOCK6 Seb Lunke Added phenotypes Adams-Oliver syndrome 2, 614219 (3) for gene: DOCK6
Prepair 1000+ v1.3 ADAR Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 6, 615010 (3) for gene: ADAR
Prepair 1000+ v1.3 ADAMTS2 Seb Lunke Added phenotypes Ehlers-Danlos syndrome, type VIIC, 225410 (3) for gene: ADAMTS2
Prepair 1000+ v1.3 ADA Seb Lunke Added phenotypes Adenosine deaminase deficiency, partial, 102700 (3) for gene: ADA
Prepair 1000+ v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Prepair 1000+ v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)
Prepair 1000+ v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Prepair 1000+ v0.0 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)
Prepair 1000+ v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Prepair 1000+ v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)
Prepair 1000+ v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Prepair 1000+ v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Prepair 1000+ v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)
Prepair 1000+ v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)