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Prepair 500+ v1.860 XPC Seb Lunke Marked gene: XPC as ready
Prepair 500+ v1.860 XPC Seb Lunke Gene: xpc has been classified as Green List (High Evidence).
Prepair 500+ v1.860 XPC Seb Lunke Phenotypes for gene: XPC were changed from Xeroderma pigmentosum, group C, 278720 (3) to Xeroderma pigmentosum, group C, MIM#278720
Prepair 500+ v1.859 XPC Seb Lunke Publications for gene: XPC were set to
Prepair 500+ v1.764 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 500+ v1.764 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 500+ v1.764 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 500+ v1.763 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 500+ v1.762 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Prepair 500+ v1.762 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 500+ v1.762 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Prepair 500+ v1.762 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Prepair 500+ v1.762 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome, type 1F, 602083 (3) to Usher syndrome, type 1F, MIM# 602083
Prepair 500+ v1.761 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Prepair 500+ v1.760 PCCB Zornitza Stark Marked gene: PCCB as ready
Prepair 500+ v1.760 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Prepair 500+ v1.760 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628
Prepair 500+ v1.759 PCCB Zornitza Stark Publications for gene: PCCB were set to
Prepair 500+ v1.758 PCCA Zornitza Stark Marked gene: PCCA as ready
Prepair 500+ v1.758 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Prepair 500+ v1.758 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, MIM#606054 to Propionicacidaemia, MIM#606054
Prepair 500+ v1.757 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, 606054 (3) to Propionicacidemia, MIM#606054
Prepair 500+ v1.756 PCCA Zornitza Stark Publications for gene: PCCA were set to
Prepair 500+ v1.755 PC Zornitza Stark Marked gene: PC as ready
Prepair 500+ v1.755 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 500+ v1.755 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 500+ v1.754 PC Zornitza Stark Publications for gene: PC were set to
Prepair 500+ v1.721 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Prepair 500+ v1.721 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.721 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Prepair 500+ v1.721 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Prepair 500+ v1.721 NPC1 Zornitza Stark Publications for gene: NPC1 were set to 11333381; 26910362
Prepair 500+ v1.469 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Prepair 500+ v1.469 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.469 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) to Simpson-Golabi-Behmel syndrome, type 1, MIM #312870
Prepair 500+ v1.468 GPC3 Zornitza Stark Publications for gene: GPC3 were set to
Prepair 500+ v1.422 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Prepair 500+ v1.422 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Prepair 500+ v1.422 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Prepair 500+ v1.421 G6PC Zornitza Stark Marked gene: G6PC as ready
Prepair 500+ v1.421 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Prepair 500+ v1.421 G6PC Zornitza Stark Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 (3) to Glycogen storage disease Ia (MIM# 232200)
Prepair 500+ v0.0 XPC Seb Lunke gene: XPC was added
gene: XPC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Prepair 500+ v0.0 PCNT Seb Lunke gene: PCNT was added
gene: PCNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Prepair 500+ v0.0 PCDH19 Seb Lunke gene: PCDH19 was added
gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Prepair 500+ v0.0 PCDH15 Seb Lunke gene: PCDH15 was added
gene: PCDH15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Prepair 500+ v0.0 PCCB Seb Lunke gene: PCCB was added
gene: PCCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Prepair 500+ v0.0 PCCA Seb Lunke gene: PCCA was added
gene: PCCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Prepair 500+ v0.0 PC Seb Lunke gene: PC was added
gene: PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Prepair 500+ v0.0 NPC2 Seb Lunke gene: NPC2 was added
gene: NPC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 29625568; 17470133
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM#607625
Prepair 500+ v0.0 NPC1 Seb Lunke gene: NPC1 was added
gene: NPC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 11333381; 26910362
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, MIM#257220
Prepair 500+ v0.0 GPC3 Seb Lunke gene: GPC3 was added
gene: GPC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Prepair 500+ v0.0 G6PC3 Seb Lunke gene: G6PC3 was added
gene: G6PC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Prepair 500+ v0.0 G6PC Seb Lunke gene: G6PC was added
gene: G6PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)