Activity

Filter

Cancel
Date Panel Item Activity
211 actions
Corneal abnormalities v1.13 PDGFRB Eleanor Williams gene: PDGFRB was added
gene: PDGFRB was added to Corneal abnormalities. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFRB were set to 33450762
Review for gene: PDGFRB was set to RED
Added comment: PMID: 33450762 - Bedrup et al 2021 - report a case of a dominant activating substitution in PDGFRB, NM_002609.3(PDGFRB):c.1996A > T, p.(Asn666Tyr), in a family with Ocular pterygium-digital keloid dysplasia (OPDKD) in which ingrowth of vascularized connective tissue on the cornea leads to severely reduced vision. The variant is affecting the same codon as reported for Penttinen syndrome (which causes widespread destruction of connective tissue causing severe disfigurement). However, unlike the Penttinen syndrome substitution, it was found that the OPDKD substitution is highly activated only at 32°C which is in cocordance with the fact that OPDKD are restricted to body parts (cornea and digits) with lower and more variable temperature than the core temperature.
Sources: Literature
Corneal abnormalities v1.12 TGFBI Arina Puzriakova Tag Q1_22_MOI was removed from gene: TGFBI.
Corneal abnormalities v1.12 TGFBI Ivone Leong Tag Q1_22_MOI tag was added to gene: TGFBI.
Corneal abnormalities v1.12 TGFBI Ivone Leong Added comment: Comment on publications: New publications added: 31322463, 30830990, 32952948
Corneal abnormalities v1.12 TGFBI Ivone Leong Publications for gene: TGFBI were set to 11146721; 15531312; 16652336; 9780098; 9727509
Corneal abnormalities v1.11 TGFBI Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more severe disease)".
Corneal abnormalities v1.11 TGFBI Ivone Leong Mode of inheritance for gene: TGFBI was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Corneal abnormalities v1.10 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome 212720; Warburg micro syndrome 2 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Corneal abnormalities v1.9 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Corneal abnormalities v1.8 GSN Ivone Leong Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type 105120; to Amyloidosis, Finnish type, OMIM:105120
Corneal abnormalities v1.7 Ivone Leong Panel name changed from Corneal dystrophy to Corneal abnormalities
List of related panels changed from Corneal abnormalities to Corneal abnormalities; Corneal dystrophy
Panel types changed to Rare Disease 100K
Corneal abnormalities v1.5 Ellen McDonagh Panel name changed from Corneal abnormalities to Corneal dystrophy
List of related panels changed from to Corneal abnormalities
Panel types changed to Rare Disease 100K; GMS Rare Disease
Corneal abnormalities PRDM5 Sarah Leigh reviewed PRDM5
Corneal abnormalities Chris Campbell promoted panel to version 1
Corneal abnormalities GLS Chris Campbell marked GLS as ready
Corneal abnormalities APOA1 Chris Campbell classified APOA1 as red
Corneal abnormalities APOA1 Chris Campbell reviewed APOA1
Corneal abnormalities AGBL1 Chris Campbell commented on AGBL1
Corneal abnormalities GLS Ellen McDonagh classified GLS as red
Corneal abnormalities GLS Ellen McDonagh edited their review of GLS
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities AGBL1 Ellen McDonagh edited their review of AGBL1
Corneal abnormalities GSN Chris Campbell classified GSN as green
Corneal abnormalities GSN Chris Campbell added GSN to panel
Corneal abnormalities GSN Chris Campbell reviewed GSN
Corneal abnormalities LAMB2 Chris Campbell commented on LAMB2
Corneal abnormalities LAMB2 Chris Campbell classified LAMB2 as red
Corneal abnormalities ABCA3 Chris Campbell classified ABCA3 as red
Corneal abnormalities ABCA3 Chris Campbell commented on ABCA3
Corneal abnormalities ABCA3 Chris Campbell commented on ABCA3
Corneal abnormalities GJA8 Chris Campbell classified GJA8 as red
Corneal abnormalities MAF Chris Campbell commented on MAF
Corneal abnormalities MAF Chris Campbell edited their review of MAF
Corneal abnormalities GJA8 Chris Campbell edited their review of GJA8
Corneal abnormalities CYP4V2 Chris Campbell commented on CYP4V2
Corneal abnormalities PAX6 Chris Campbell classified PAX6 as red
Corneal abnormalities PAX6 Chris Campbell commented on PAX6
Corneal abnormalities PAX6 Chris Campbell edited their review of PAX6
Corneal abnormalities BEST1 Chris Campbell edited their review of BEST1
Corneal abnormalities BEST1 Chris Campbell marked BEST1 as ready
Corneal abnormalities BEST1 Chris Campbell commented on BEST1
Corneal abnormalities MIR184 Chris Campbell marked MIR184 as ready
Corneal abnormalities ABCA3 Chris Campbell marked ABCA3 as ready
Corneal abnormalities ALDH18A1 Chris Campbell marked ALDH18A1 as ready
Corneal abnormalities PAX6 Chris Campbell marked PAX6 as ready
Corneal abnormalities GJA8 Chris Campbell marked GJA8 as ready
Corneal abnormalities MAF Chris Campbell marked MAF as ready
Corneal abnormalities MAF Chris Campbell marked MAF as ready
Corneal abnormalities MAF Chris Campbell commented on MAF
Corneal abnormalities MAF Chris Campbell classified MAF as green
Corneal abnormalities GJA8 Chris Campbell classified GJA8 as green
Corneal abnormalities GJA8 Chris Campbell commented on GJA8
Corneal abnormalities ABCA3 Chris Campbell classified ABCA3 as green
Corneal abnormalities PAX6 Chris Campbell classified PAX6 as green
Corneal abnormalities PAX6 Chris Campbell commented on PAX6
Corneal abnormalities OVOL2 Chris Campbell classified OVOL2 as green
Corneal abnormalities LAMB2 Chris Campbell marked LAMB2 as ready
Corneal abnormalities LAMB2 Chris Campbell classified LAMB2 as green
Corneal abnormalities LAMB2 Chris Campbell reviewed LAMB2
Corneal abnormalities ALDH18A1 Chris Campbell classified ALDH18A1 as green
Corneal abnormalities ALDH18A1 Chris Campbell classified ALDH18A1 as green
Corneal abnormalities AGBL1 Ellen Thomas classified AGBL1 as amber
Corneal abnormalities AGBL1 Ellen Thomas commented on AGBL1
Corneal abnormalities ZEB1 Ellen McDonagh marked ZEB1 as ready
Corneal abnormalities ZEB1 Ellen McDonagh classified ZEB1 as green
Corneal abnormalities ZEB1 Ellen McDonagh commented on ZEB1
Corneal abnormalities SLC16A12 Ellen McDonagh marked SLC16A12 as ready
Corneal abnormalities SLC16A12 Ellen McDonagh commented on SLC16A12
Corneal abnormalities SLC16A12 Ellen McDonagh classified SLC16A12 as green
Corneal abnormalities RAB3GAP2 Ellen McDonagh marked RAB3GAP2 as ready
Corneal abnormalities RAB3GAP2 Ellen McDonagh commented on RAB3GAP2
Corneal abnormalities RAB3GAP2 Ellen McDonagh classified RAB3GAP2 as green
Corneal abnormalities RAB3GAP1 Ellen McDonagh marked RAB3GAP1 as ready
Corneal abnormalities RAB3GAP1 Ellen McDonagh classified RAB3GAP1 as green
Corneal abnormalities RAB3GAP1 Ellen McDonagh commented on RAB3GAP1
Corneal abnormalities RAB18 Ellen McDonagh marked RAB18 as ready
Corneal abnormalities RAB18 Ellen McDonagh classified RAB18 as green
Corneal abnormalities RAB18 Ellen McDonagh commented on RAB18
Corneal abnormalities PIK3R1 Ellen McDonagh marked PIK3R1 as ready
Corneal abnormalities PIK3R1 Ellen McDonagh commented on PIK3R1
Corneal abnormalities PIK3R1 Ellen McDonagh classified PIK3R1 as green
Corneal abnormalities OVOL2 Ellen McDonagh commented on OVOL2
Corneal abnormalities OVOL2 Ellen McDonagh classified OVOL2 as amber
Corneal abnormalities MIR184 Ellen McDonagh classified MIR184 as green
Corneal abnormalities MED25 Ellen McDonagh classified MED25 as red
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities LAMB2 Ellen McDonagh classified LAMB2 as amber
Corneal abnormalities GLS Ellen McDonagh classified GLS as amber
Corneal abnormalities ALDH18A1 Ellen McDonagh classified ALDH18A1 as amber
Corneal abnormalities MAF Ellen McDonagh classified MAF as amber
Corneal abnormalities MAF Ellen McDonagh commented on MAF
Corneal abnormalities LTBP2 Ellen McDonagh marked LTBP2 as ready
Corneal abnormalities LTBP2 Ellen McDonagh classified LTBP2 as green
Corneal abnormalities LTBP2 Ellen McDonagh commented on LTBP2
Corneal abnormalities GJA8 Ellen McDonagh commented on GJA8
Corneal abnormalities GJA8 Ellen McDonagh classified GJA8 as red
Corneal abnormalities CYP4V2 Ellen McDonagh commented on CYP4V2
Corneal abnormalities CYP4V2 Ellen McDonagh classified CYP4V2 as red
Corneal abnormalities APOA1 Ellen McDonagh classified APOA1 as amber
Corneal abnormalities APOA1 Ellen McDonagh commented on APOA1
Corneal abnormalities ABCA3 Ellen McDonagh classified ABCA3 as red
Corneal abnormalities AGBL1 Ellen McDonagh classified AGBL1 as amber
Corneal abnormalities AGBL1 Ellen McDonagh commented on AGBL1
Corneal abnormalities VSX1 Ellen McDonagh marked VSX1 as ready
Corneal abnormalities VSX1 Ellen McDonagh commented on VSX1
Corneal abnormalities VSX1 Ellen McDonagh classified VSX1 as green
Corneal abnormalities PITX2 Ellen McDonagh marked PITX2 as ready
Corneal abnormalities PITX2 Ellen McDonagh commented on PITX2
Corneal abnormalities PITX2 Ellen McDonagh classified PITX2 as green
Corneal abnormalities PAX6 Ellen McDonagh commented on PAX6
Corneal abnormalities PAX6 Ellen McDonagh classified PAX6 as amber
Corneal abnormalities DCN Ellen McDonagh marked DCN as ready
Corneal abnormalities DCN Ellen McDonagh classified DCN as green
Corneal abnormalities DCN Ellen McDonagh commented on DCN
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as red
Corneal abnormalities BEST1 Ellen McDonagh commented on BEST1
Corneal abnormalities HMX1 Ellen McDonagh marked HMX1 as ready
Corneal abnormalities HMX1 Ellen McDonagh classified HMX1 as green
Corneal abnormalities MIR184 Ellen McDonagh classified MIR184 as amber
Corneal abnormalities MIR184 Ellen McDonagh commented on MIR184
Corneal abnormalities MED25 Ellen McDonagh commented on MED25
Corneal abnormalities MED25 Ellen McDonagh classified MED25 as amber
Corneal abnormalities LAMB2 Ellen McDonagh classified LAMB2 as green
Corneal abnormalities LAMB2 Ellen McDonagh commented on LAMB2
Corneal abnormalities KRT3 Ellen McDonagh marked KRT3 as ready
Corneal abnormalities KRT3 Ellen McDonagh classified KRT3 as green
Corneal abnormalities KRT3 Ellen McDonagh commented on KRT3
Corneal abnormalities KRT12 Ellen McDonagh marked KRT12 as ready
Corneal abnormalities KRT12 Ellen McDonagh classified KRT12 as green
Corneal abnormalities KRT12 Ellen McDonagh commented on KRT12
Corneal abnormalities KERA Ellen McDonagh marked KERA as ready
Corneal abnormalities KERA Ellen McDonagh classified KERA as green
Corneal abnormalities KERA Ellen McDonagh commented on KERA
Corneal abnormalities HMX1 Ellen McDonagh classified HMX1 as amber
Corneal abnormalities HMX1 Ellen McDonagh commented on HMX1
Corneal abnormalities GJA1 Ellen McDonagh marked GJA1 as ready
Corneal abnormalities GJA1 Ellen McDonagh classified GJA1 as green
Corneal abnormalities GJA1 Ellen McDonagh commented on GJA1
Corneal abnormalities GJA1 Ellen McDonagh marked GJA1 as ready
Corneal abnormalities COL8A2 Ellen McDonagh marked COL8A2 as ready
Corneal abnormalities COL8A2 Ellen McDonagh classified COL8A2 as green
Corneal abnormalities COL8A2 Ellen McDonagh commented on COL8A2
Corneal abnormalities CHRDL1 Ellen McDonagh marked CHRDL1 as ready
Corneal abnormalities CHRDL1 Ellen McDonagh commented on CHRDL1
Corneal abnormalities CHRDL1 Ellen McDonagh classified CHRDL1 as green
Corneal abnormalities B3GALTL Ellen McDonagh marked B3GALTL as ready
Corneal abnormalities B3GALTL Ellen McDonagh classified B3GALTL as green
Corneal abnormalities B3GALTL Ellen McDonagh commented on B3GALTL
Corneal abnormalities ALDH18A1 Ellen McDonagh classified ALDH18A1 as green
Corneal abnormalities ALDH18A1 Ellen McDonagh commented on ALDH18A1
Corneal abnormalities ADAMTS18 Ellen McDonagh marked ADAMTS18 as ready
Corneal abnormalities ADAMTS18 Ellen McDonagh classified ADAMTS18 as green
Corneal abnormalities ADAMTS18 Ellen McDonagh commented on ADAMTS18
Corneal abnormalities ABCA3 Ellen McDonagh classified ABCA3 as amber
Corneal abnormalities ABCA3 Ellen McDonagh commented on ABCA3
Corneal abnormalities ZNF469 Ellen McDonagh marked ZNF469 as ready
Corneal abnormalities ZNF469 Ellen McDonagh commented on ZNF469
Corneal abnormalities ZNF469 Ellen McDonagh classified ZNF469 as green
Corneal abnormalities UBIAD1 Ellen McDonagh marked UBIAD1 as ready
Corneal abnormalities UBIAD1 Ellen McDonagh classified UBIAD1 as green
Corneal abnormalities UBIAD1 Ellen McDonagh commented on UBIAD1
Corneal abnormalities TGFBI Ellen McDonagh classified TGFBI as green
Corneal abnormalities TGFBI Ellen McDonagh commented on TGFBI
Corneal abnormalities TACSTD2 Ellen McDonagh marked TACSTD2 as ready
Corneal abnormalities TACSTD2 Ellen McDonagh classified TACSTD2 as green
Corneal abnormalities TACSTD2 Ellen McDonagh commented on TACSTD2
Corneal abnormalities SLC4A11 Ellen McDonagh classified SLC4A11 as green
Corneal abnormalities SLC4A11 Ellen McDonagh commented on SLC4A11
Corneal abnormalities PRDM5 Ellen McDonagh marked PRDM5 as ready
Corneal abnormalities PRDM5 Ellen McDonagh classified PRDM5 as green
Corneal abnormalities PRDM5 Ellen McDonagh commented on PRDM5
Corneal abnormalities PIKFYVE Ellen McDonagh marked PIKFYVE as ready
Corneal abnormalities PIKFYVE Ellen McDonagh classified PIKFYVE as green
Corneal abnormalities PIKFYVE Ellen McDonagh commented on PIKFYVE
Corneal abnormalities CHST6 Ellen McDonagh marked CHST6 as ready
Corneal abnormalities CHST6 Ellen McDonagh classified CHST6 as green
Corneal abnormalities CHST6 Ellen McDonagh commented on CHST6
Corneal abnormalities ZNF469 Chris Campbell reviewed ZNF469
Corneal abnormalities ZEB1 Chris Campbell reviewed ZEB1
Corneal abnormalities UBIAD1 Chris Campbell reviewed UBIAD1
Corneal abnormalities TGFBI Chris Campbell reviewed TGFBI
Corneal abnormalities TACSTD2 Chris Campbell reviewed TACSTD2
Corneal abnormalities SLC4A11 Chris Campbell reviewed SLC4A11
Corneal abnormalities SLC16A12 Chris Campbell reviewed SLC16A12
Corneal abnormalities RAB3GAP2 Chris Campbell reviewed RAB3GAP2
Corneal abnormalities RAB3GAP1 Chris Campbell reviewed RAB3GAP1
Corneal abnormalities RAB18 Chris Campbell reviewed RAB18
Corneal abnormalities PRDM5 Chris Campbell reviewed PRDM5
Corneal abnormalities PIKFYVE Chris Campbell reviewed PIKFYVE
Corneal abnormalities PIK3R1 Chris Campbell reviewed PIK3R1
Corneal abnormalities OVOL2 Chris Campbell reviewed OVOL2
Corneal abnormalities MIR184 Chris Campbell reviewed MIR184
Corneal abnormalities MED25 Chris Campbell reviewed MED25
Corneal abnormalities LAMB2 Chris Campbell reviewed LAMB2
Corneal abnormalities KRT3 Chris Campbell reviewed KRT3
Corneal abnormalities KRT12 Chris Campbell reviewed KRT12
Corneal abnormalities KERA Chris Campbell reviewed KERA
Corneal abnormalities HMX1 Chris Campbell reviewed HMX1
Corneal abnormalities GLS1 Chris Campbell reviewed GLS1*
Corneal abnormalities GJA1 Chris Campbell reviewed GJA1
Corneal abnormalities COL8A2 Chris Campbell reviewed COL8A2
Corneal abnormalities CHST6 Chris Campbell reviewed CHST6
Corneal abnormalities CHRDL1 Chris Campbell reviewed CHRDL1
Corneal abnormalities B3GALTL Chris Campbell reviewed B3GALTL
Corneal abnormalities ALDH18A1 Chris Campbell reviewed ALDH18A1
Corneal abnormalities ADAMTS18 Chris Campbell reviewed ADAMTS18
Corneal abnormalities ABCA3 Chris Campbell reviewed ABCA3
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as amber
Corneal abnormalities BEST1 Ellen McDonagh marked BEST1 as ready
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as red