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Amelogenesis imperfecta v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Amelogenesis imperfecta v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Amelogenesis imperfecta v2.22 SP6 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: SP6.
Amelogenesis imperfecta v2.22 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Amelogenesis imperfecta v2.22 PEX26 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: PEX26.
Amelogenesis imperfecta v2.22 SP6 Achchuthan Shanmugasundram reviewed gene: SP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Amelogenesis imperfecta v2.22 PEX6 Achchuthan Shanmugasundram commented on gene: PEX6
Amelogenesis imperfecta v2.22 PEX26 Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Amelogenesis imperfecta v2.21 SP6 Achchuthan Shanmugasundram Source Expert Review Green was added to SP6.
Source NHS GMS was added to SP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Amelogenesis imperfecta v2.21 PEX6 Achchuthan Shanmugasundram Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.21 PEX26 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX26.
Source NHS GMS was added to PEX26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Amelogenesis imperfecta v2.20 COL17A1 Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting); Hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v2.19 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Amelogenesis imperfecta v2.18 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed publications to: 29220678
Amelogenesis imperfecta v2.18 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Amelogenesis imperfecta v2.18 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Amelogenesis imperfecta v2.18 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.17 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27302843; 26387595; 16530715
Amelogenesis imperfecta v2.16 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: The review by Claire Smith (University of Leeds)(below), states that amelogenesis imperfecta maybe over looked in patients with Peroxisome biogenesis disorder 4A (Zellweger) (OMIM:614862) and Peroxisome biogenesis disorder 4B (OMIM:6148630), as these conditions are characterized by a severe phenotype and premature death in some cases. With this in mind the Peroxisome biogenesis disorder 4B (OMIM:614863) could be relevant to this panel and such the mode of inheritance should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect variants resulting in allelic expression imbalance and dominant-negative effect (PMID: 29220678).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.16 PEX6 Sarah Leigh reviewed gene: PEX6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Heimler syndrome 2, OMIM:616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams changed review comment from: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants.
Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.; to: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants.

Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia phenotypes and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams commented on gene: LTBP3
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams Publications for gene: LTBP3 were set to 25669657; 28084688
Amelogenesis imperfecta v2.15 LTBP3 Eleanor Williams Phenotypes for gene: LTBP3 were changed from Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia to Dental anomalies and short stature, OMIM:601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Amelogenesis imperfecta v2.14 PEX26 Eleanor Williams Classified gene: PEX26 as Amber List (moderate evidence)
Amelogenesis imperfecta v2.14 PEX26 Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber for now, but with recommendation for green rating following GMS review. 3 cases now reported with a syndromic amelogenesis imperfecta phenotype.
Amelogenesis imperfecta v2.14 PEX26 Eleanor Williams Gene: pex26 has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v2.13 PEX26 Eleanor Williams Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873; Heimler syndrome; Amelogenesis imperfecta; enamel dysplasia to Amelogenesis Imperfecta, MONDO:0019507; Heimler syndrome
Amelogenesis imperfecta v2.12 PEX26 Eleanor Williams Publications for gene: PEX26 were set to 28944237
Amelogenesis imperfecta v2.11 PEX26 Eleanor Williams Tag watchlist was removed from gene: PEX26.
Tag Q3_21_rating tag was added to gene: PEX26.
Amelogenesis imperfecta v2.11 PEX26 Eleanor Williams commented on gene: PEX26
Amelogenesis imperfecta v2.11 SP6 Eleanor Williams Classified gene: SP6 as Amber List (moderate evidence)
Amelogenesis imperfecta v2.11 SP6 Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber, but with recommendation for green rating following GMS review. 2 unrelated cases, plus animal model.
Amelogenesis imperfecta v2.11 SP6 Eleanor Williams Gene: sp6 has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v2.10 SP6 Eleanor Williams Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis Imperfecta, MONDO:0019507
Amelogenesis imperfecta v2.9 SP6 Eleanor Williams Publications for gene: SP6 were set to 32167558; 18156176; 18297738; 22676574
Amelogenesis imperfecta v2.8 SP6 Eleanor Williams Tag Q3_21_rating tag was added to gene: SP6.
Amelogenesis imperfecta v2.8 SP6 Eleanor Williams edited their review of gene: SP6: Added comment: Additional case from Korea reported in PMID: 33652941 (Kim et al 2021) has the same nucleotide positions affected as in previous case (c.817_818delinsAT, p.(Ala273Met)) in the SP6 gene. The variant was de novo and the child showed unusual root development, taurodontism, and severe hypoplastic AI.; Changed rating: GREEN
Amelogenesis imperfecta v2.8 SP6 Zornitza Stark reviewed gene: SP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33652941; Phenotypes: Amelogenesis imperfecta; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v2.8 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 33926089; Phenotypes: Heimler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.8 DLX3 Eleanor Williams changed review comment from: Comment on phenotypes: Adding phenotype of Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic to this gene at suggestion of Dr Susan Parekh (Consultant in Pediatric Dentistry, GOSH); to: Comment on phenotypes: Adding phenotype of Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic to this gene at suggestion of Dr Susan Parekh (Consultant in Pediatric Dentistry, GOSH)
Amelogenesis imperfecta v2.8 SP6 Eleanor Williams Publications for gene: SP6 were set to 32167558
Amelogenesis imperfecta v2.7 SP6 Eleanor Williams Classified gene: SP6 as Amber List (moderate evidence)
Amelogenesis imperfecta v2.7 SP6 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 1 case plus rodent models reported.
Amelogenesis imperfecta v2.7 SP6 Eleanor Williams Gene: sp6 has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v2.6 SP6 Eleanor Williams gene: SP6 was added
gene: SP6 was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP6 were set to 32167558
Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta
Review for gene: SP6 was set to AMBER
Added comment: PMID: 32167558 - Smith et al 2020 - report a 2 bp variant c.817_818GC>AA in SP6 in a Caucasian family with autosomal dominant hypoplastic AI which results in a missense change. Report that mice and rat knockouts also show a dental phenotype (PMID: 18156176, 18297738, 22676574 )
Sources: Literature
Amelogenesis imperfecta v2.5 AMELX Eleanor Williams Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta, type 1E, 301200; Amelogenesis Imperfecta, Type IE, 301200; X-linked hypoplastic amelogenesis imperfecta; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI to Amelogenesis imperfecta, type 1E, 301200; iX-linked hypoplastic amelogenesis imperfecta; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI
Amelogenesis imperfecta v2.4 Eleanor Williams Panel version has been signed off
Amelogenesis imperfecta v2.3 Eleanor Williams Panel version has been signed off
Amelogenesis imperfecta v2.2 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Amelogenesis imperfecta v2.0 PEX6 Louise Daugherty Tag watchlist was removed from gene: PEX6.
Amelogenesis imperfecta v2.0 PEX6 Louise Daugherty commented on gene: PEX6
Amelogenesis imperfecta v2.0 Eleanor Williams promoted panel to version 2.0
Amelogenesis imperfecta v1.17 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Amelogenesis imperfecta v1.16 Eleanor Williams List of related panels changed from Amelogenesis Imperfecta to Amelogenesis Imperfecta; R340
Amelogenesis imperfecta v1.14 DLX3 Eleanor Williams Added comment: Comment on phenotypes: Adding phenotype of Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic to this gene at suggestion of Dr Susan Parekh (Consultant in Pediatric Dentistry, GOSH)
Amelogenesis imperfecta v1.14 DLX3 Eleanor Williams Phenotypes for gene: DLX3 were changed from Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair to Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
Amelogenesis imperfecta v1.13 RELT Eleanor Williams Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic) to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386
Amelogenesis imperfecta v1.12 SLC10A7 Eleanor Williams Phenotypes for gene: SLC10A7 were changed from skeletal dysplasia and amelogenesis imperfecta to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; scoliosis
Amelogenesis imperfecta v1.11 SLC10A7 Eleanor Williams Publications for gene: SLC10A7 were set to 30082715
Amelogenesis imperfecta v1.10 SLC10A7 Eleanor Williams Classified gene: SLC10A7 as Green List (high evidence)
Amelogenesis imperfecta v1.10 SLC10A7 Eleanor Williams Added comment: Comment on list classification: Upgrading to green as the are now 5 distinct families with identified variants in SLC10A7 and a relevant phenotype. Evidence also from zebrafish and mouse models.
Amelogenesis imperfecta v1.10 SLC10A7 Eleanor Williams Gene: slc10a7 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.9 SLC10A7 Eleanor Williams commented on gene: SLC10A7
Amelogenesis imperfecta v1.9 SLC10A7 Claire Smith reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29878199, 30082715; Phenotypes: OMIM: 618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS), short stature, amelogenesis imperfect hypo mineralised, skeletal dysplasia, scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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