PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
29 actions
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, 612301 (3) to Osteopetrosis, autosomal recessive 7, MIM#612301
Prepair 1000+ v1.1319 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Prepair 1000+ v1.1257 TNFRSF11A Michelle Torres reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2, 259710 (3) to Osteopetrosis, autosomal recessive 2, MIM#259710
Prepair 1000+ v1.789 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Prepair 1000+ v1.701 TNFSF11 Andrew Coventry reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511, 36031188, 32940787, 32048120, 10984520; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.674 LRRC6 Lilian Downie Added comment: Comment when marking as ready: Note alternative gene name DNAAF11
Prepair 1000+ v1.674 LRRC6 Lilian Downie Added comment: Comment when marking as ready: Note alternative gene name DNAAF11
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000
Prepair 1000+ v1.398 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Prepair 1000+ v1.390 TNFRSF11B Andrew Coventry reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25108083 34166796 29080812 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 F11 Zornitza Stark Marked gene: F11 as ready
Prepair 1000+ v0.188 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.186 F11 Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) to Factor XI deficiency, autosomal recessive, (MIM#612416)
Prepair 1000+ v0.185 F11 Zornitza Stark Classified gene: F11 as Red List (low evidence)
Prepair 1000+ v0.185 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.184 F11 Zornitza Stark Tag for review was removed from gene: F11.
Prepair 1000+ v0.184 F11 Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.85 F11 Zornitza Stark Tag for review tag was added to gene: F11.
Prepair 1000+ v0.61 F11 Crystle Lee gene: F11 was added
gene: F11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: F11 were set to 18446632; 15026311; 27723456
Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416)
Review for gene: F11 was set to AMBER
Added comment: Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).

PMID: 27723456 - "Bleeding due to FXI deficiency is variable and does not correlate with the plasma FXI level or FXI coagulant activity1"
Sources: Literature
Prepair 1000+ v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)
Prepair 1000+ v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)
Prepair 1000+ v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)