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Amelogenesis imperfecta v1.9 RELT Eleanor Williams Publications for gene: RELT were set to PMID: 30506946
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Classified gene: RELT as Green List (high evidence)
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Added comment: Comment on list classification: 3 cases with 3 different variants. Segregation of the variant with the disease. Mouse knockout shows a related phenotype.
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Gene: relt has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.7 RELT Eleanor Williams commented on gene: RELT
Amelogenesis imperfecta v1.7 RELT Claire Smith gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to PMID: 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic)
Penetrance for gene: RELT were set to Complete
Review for gene: RELT was set to GREEN
Added comment: PMID: 30506946 present evidence of three consanguineous Turkish families with irregular hypoplastic amelogenesis imperfecta. The authors also present a Relt-/- mouse model with incisor and molar enamel malformations. RELT should be included as a causative gene in diagnostic panels for AR AI in future.
Sources: Literature
Amelogenesis imperfecta v1.6 Ellen McDonagh Panel name changed from Amelogenesis Imperfecta to Amelogenesis imperfecta
List of related panels changed from to Amelogenesis Imperfecta
Panel types changed to Rare Disease 100K; GMS Rare Disease
Amelogenesis imperfecta v1.5 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
Sources: Literature
Amelogenesis imperfecta Sarah Leigh promoted panel to version 1.0
Amelogenesis imperfecta CLDN16 Sarah Leigh classified CLDN16 as Amber List (moderate evidence)
Amelogenesis imperfecta CLDN16 Sarah Leigh marked CLDN16 as ready
Amelogenesis imperfecta CLDN19 Sarah Leigh marked CLDN19 as ready
Amelogenesis imperfecta CLDN19 Sarah Leigh classified CLDN19 as Amber List (moderate evidence)
Amelogenesis imperfecta LTBP3 Sarah Leigh marked LTBP3 as ready
Amelogenesis imperfecta SLC13A5 Sarah Leigh marked SLC13A5 as ready
Amelogenesis imperfecta SLC13A5 Sarah Leigh classified SLC13A5 as Green List (high evidence)
Amelogenesis imperfecta TUFT1 Sarah Leigh reviewed TUFT1
Amelogenesis imperfecta ROGDI Sarah Leigh marked ROGDI as ready
Amelogenesis imperfecta ROGDI Sarah Leigh classified ROGDI as Green List (high evidence)
Amelogenesis imperfecta ORAI1 Sarah Leigh marked ORAI1 as ready
Amelogenesis imperfecta ORAI1 Sarah Leigh classified ORAI1 as Green List (high evidence)
Amelogenesis imperfecta STIM1 Sarah Leigh marked STIM1 as ready
Amelogenesis imperfecta PEX26 Ellen McDonagh marked PEX26 as ready
Amelogenesis imperfecta STIM1 Ellen McDonagh marked STIM1 as ready
Amelogenesis imperfecta SLC13A5 Claire Smith reviewed SLC13A5
Amelogenesis imperfecta STIM1 Claire Smith reviewed STIM1
Amelogenesis imperfecta ROGDI Claire Smith reviewed ROGDI
Amelogenesis imperfecta COL17A1 Claire Smith reviewed COL17A1
Amelogenesis imperfecta ORAI1 Claire Smith reviewed ORAI1
Amelogenesis imperfecta LAMB3 Rebecca Foulger marked LAMB3 as ready
Amelogenesis imperfecta LAMA3 Rebecca Foulger marked LAMA3 as ready
Amelogenesis imperfecta COL17A1 Rebecca Foulger marked COL17A1 as ready
Amelogenesis imperfecta AMTN Rebecca Foulger classified AMTN as amber
Amelogenesis imperfecta PEX26 Rebecca Foulger classified PEX26 as amber
Amelogenesis imperfecta PEX26 Rebecca Foulger edited their review of PEX26
Amelogenesis imperfecta PEX26 Rebecca Foulger commented on PEX26
Amelogenesis imperfecta PEX1 Rebecca Foulger marked PEX1 as ready
Amelogenesis imperfecta PEX6 Rebecca Foulger marked PEX6 as ready
Amelogenesis imperfecta PEX6 Rebecca Foulger classified PEX6 as green
Amelogenesis imperfecta STIM1 Rebecca Foulger classified STIM1 as green
Amelogenesis imperfecta STIM1 Rebecca Foulger commented on STIM1
Amelogenesis imperfecta STIM1 Rebecca Foulger edited their review of STIM1
Amelogenesis imperfecta STIM1 Rebecca Foulger commented on STIM1
Amelogenesis imperfecta PEX26 Claire Smith added PEX26 to panel
Amelogenesis imperfecta PEX26 Claire Smith reviewed PEX26
Amelogenesis imperfecta PEX1 Claire Smith reviewed PEX1
Amelogenesis imperfecta PEX6 Claire Smith reviewed PEX6
Amelogenesis imperfecta PEX6 Rebecca Foulger classified PEX6 as amber
Amelogenesis imperfecta PEX6 Rebecca Foulger commented on PEX6
Amelogenesis imperfecta PEX1 Rebecca Foulger classified PEX1 as green
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta ITGB4 Rebecca Foulger classified ITGB4 as amber
Amelogenesis imperfecta ITGB4 Rebecca Foulger commented on ITGB4
Amelogenesis imperfecta ITGB4 Rebecca Foulger edited their review of ITGB4
Amelogenesis imperfecta LTBP3 Rebecca Foulger classified LTBP3 as green
Amelogenesis imperfecta LTBP3 Rebecca Foulger commented on LTBP3
Amelogenesis imperfecta SLC24A4 Rebecca Foulger marked SLC24A4 as ready
Amelogenesis imperfecta SLC24A4 Rebecca Foulger classified SLC24A4 as green
Amelogenesis imperfecta SLC24A4 Rebecca Foulger commented on SLC24A4
Amelogenesis imperfecta SLC24A4 Rebecca Foulger edited their review of SLC24A4
Amelogenesis imperfecta SLC24A4 Rebecca Foulger commented on SLC24A4
Amelogenesis imperfecta COL17A1 Rebecca Foulger classified COL17A1 as green
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta LAMC2 Rebecca Foulger classified LAMC2 as amber
Amelogenesis imperfecta FAM20C Rebecca Foulger marked FAM20C as ready
Amelogenesis imperfecta FAM20C Rebecca Foulger classified FAM20C as green
Amelogenesis imperfecta FAM20C Rebecca Foulger classified FAM20C as red
Amelogenesis imperfecta FAM20C Rebecca Foulger commented on FAM20C
Amelogenesis imperfecta LAMB3 Rebecca Foulger marked LAMB3 as ready
Amelogenesis imperfecta GPR68 Rebecca Foulger marked GPR68 as ready
Amelogenesis imperfecta ACPT Rebecca Foulger marked ACPT as ready
Amelogenesis imperfecta FAM83H Rebecca Foulger marked FAM83H as ready
Amelogenesis imperfecta LAMC2 Rebecca Foulger marked LAMC2 as ready
Amelogenesis imperfecta LAMC2 Rebecca Foulger classified LAMC2 as red
Amelogenesis imperfecta CNNM4 emma baple marked CNNM4 as ready
Amelogenesis imperfecta CNNM4 emma baple classified CNNM4 as green
Amelogenesis imperfecta CNNM4 emma baple reviewed CNNM4
Amelogenesis imperfecta LAMA3 Rebecca Foulger marked LAMA3 as ready
Amelogenesis imperfecta LAMA3 Rebecca Foulger classified LAMA3 as green
Amelogenesis imperfecta FAM20C Claire Smith reviewed FAM20C
Amelogenesis imperfecta LAMC2 Claire Smith reviewed LAMC2
Amelogenesis imperfecta CNNM4 Claire Smith reviewed CNNM4
Amelogenesis imperfecta C4orf26 Louise Daugherty commented on C4orf26
Amelogenesis imperfecta AMBN Rebecca Foulger marked AMBN as ready
Amelogenesis imperfecta AMBN Rebecca Foulger edited their review of AMBN
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as green
Amelogenesis imperfecta GPR68 Rebecca Foulger edited their review of GPR68
Amelogenesis imperfecta GPR68 Rebecca Foulger classified GPR68 as green
Amelogenesis imperfecta GPR68 Rebecca Foulger commented on GPR68
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta ITGB6 Rebecca Foulger marked ITGB6 as ready
Amelogenesis imperfecta ITGB6 Rebecca Foulger classified ITGB6 as green
Amelogenesis imperfecta AMTN Rebecca Foulger marked AMTN as ready
Amelogenesis imperfecta AMTN Rebecca Foulger classified AMTN as red
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as amber
Amelogenesis imperfecta AMBN Rebecca Foulger commented on AMBN
Amelogenesis imperfecta ACPT Rebecca Foulger classified ACPT as green
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta LAMB3 Rebecca Foulger classified LAMB3 as green
Amelogenesis imperfecta LAMB3 Rebecca Foulger commented on LAMB3
Amelogenesis imperfecta KLK4 Rebecca Foulger marked KLK4 as ready
Amelogenesis imperfecta KLK4 Rebecca Foulger classified KLK4 as green
Amelogenesis imperfecta KLK4 Rebecca Foulger commented on KLK4
Amelogenesis imperfecta FAM83H Rebecca Foulger marked FAM83H as ready
Amelogenesis imperfecta FAM83H Rebecca Foulger classified FAM83H as green
Amelogenesis imperfecta FAM83H Rebecca Foulger commented on FAM83H
Amelogenesis imperfecta FAM20A Rebecca Foulger marked FAM20A as ready
Amelogenesis imperfecta FAM20A Rebecca Foulger classified FAM20A as green
Amelogenesis imperfecta WDR72 Rebecca Foulger marked WDR72 as ready
Amelogenesis imperfecta WDR72 Rebecca Foulger classified WDR72 as green
Amelogenesis imperfecta WDR72 Rebecca Foulger commented on WDR72
Amelogenesis imperfecta MMP20 Rebecca Foulger marked MMP20 as ready
Amelogenesis imperfecta C4orf26 Rebecca Foulger marked C4orf26 as ready
Amelogenesis imperfecta C4orf26 Rebecca Foulger classified C4orf26 as green
Amelogenesis imperfecta ITGB6 Claire Smith reviewed ITGB6
Amelogenesis imperfecta SLC24A4 Claire Smith reviewed SLC24A4
Amelogenesis imperfecta LAMA3 Claire Smith reviewed LAMA3
Amelogenesis imperfecta AMTN Claire Smith reviewed AMTN
Amelogenesis imperfecta GPR68 Claire Smith reviewed GPR68
Amelogenesis imperfecta AMBN Claire Smith reviewed AMBN
Amelogenesis imperfecta ACPT Claire Smith reviewed ACPT
Amelogenesis imperfecta LAMB3 Claire Smith reviewed LAMB3
Amelogenesis imperfecta KLK4 Claire Smith reviewed KLK4
Amelogenesis imperfecta FAM83H Claire Smith reviewed FAM83H
Amelogenesis imperfecta FAM20A Claire Smith reviewed FAM20A
Amelogenesis imperfecta C4orf26 Claire Smith reviewed C4orf26
Amelogenesis imperfecta MMP20 Rebecca Foulger commented on MMP20
Amelogenesis imperfecta ENAM Rebecca Foulger marked ENAM as ready
Amelogenesis imperfecta ENAM Rebecca Foulger classified ENAM as green
Amelogenesis imperfecta DLX3 Rebecca Foulger marked DLX3 as ready
Amelogenesis imperfecta DLX3 Rebecca Foulger classified DLX3 as green
Amelogenesis imperfecta AMELX Rebecca Foulger marked AMELX as ready
Amelogenesis imperfecta AMELX Rebecca Foulger edited their review of AMELX
Amelogenesis imperfecta AMELX Rebecca Foulger classified AMELX as green
Amelogenesis imperfecta AMELX Rebecca Foulger commented on AMELX
Amelogenesis imperfecta AMELX Claire Smith reviewed AMELX
Amelogenesis imperfecta WDR72 Claire Smith reviewed WDR72
Amelogenesis imperfecta MMP20 Claire Smith reviewed MMP20
Amelogenesis imperfecta ACPT Louise Daugherty commented on ACPT
Amelogenesis imperfecta DLX3 Rebecca Foulger commented on DLX3
Amelogenesis imperfecta ENAM Claire Smith reviewed ENAM
Amelogenesis imperfecta DLX3 Claire Smith reviewed DLX3
Amelogenesis imperfecta TP63 Rebecca Foulger commented on TP63
Amelogenesis imperfecta KCNJ1 Rebecca Foulger commented on KCNJ1
Amelogenesis imperfecta AMTN Rebecca Foulger commented on AMTN
Amelogenesis imperfecta CLDN19 Rebecca Foulger commented on CLDN19
Amelogenesis imperfecta CLDN16 Rebecca Foulger commented on CLDN16
Amelogenesis imperfecta SLC13A5 Rebecca Foulger commented on SLC13A5
Amelogenesis imperfecta TMEM165 Rebecca Foulger commented on TMEM165
Amelogenesis imperfecta SMARCD2 Rebecca Foulger commented on SMARCD2
Amelogenesis imperfecta ROGDI Rebecca Foulger commented on ROGDI
Amelogenesis imperfecta C4orf26 Rebecca Foulger commented on C4orf26
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta FAM20C Rebecca Foulger commented on FAM20C
Amelogenesis imperfecta LAMC2 Rebecca Foulger edited their review of LAMC2
Amelogenesis imperfecta LAMC2 Rebecca Foulger commented on LAMC2
Amelogenesis imperfecta LAMA3 Rebecca Foulger edited their review of LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta ITGB6 Rebecca Foulger commented on ITGB6
Amelogenesis imperfecta ITGB4 Rebecca Foulger commented on ITGB4
Amelogenesis imperfecta FAM20A Rebecca Foulger commented on FAM20A
Amelogenesis imperfecta ENAM Rebecca Foulger commented on ENAM
Amelogenesis imperfecta Ellen McDonagh approved panel