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Amelogenesis imperfecta v1.10 PLXNB2 Zornitza Stark Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related
Amelogenesis imperfecta v1.9 PLXNB2 Zornitza Stark Marked gene: PLXNB2 as ready
Amelogenesis imperfecta v1.9 PLXNB2 Zornitza Stark Gene: plxnb2 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.9 PLXNB2 Chirag Patel Classified gene: PLXNB2 as Green List (high evidence)
Amelogenesis imperfecta v1.9 PLXNB2 Chirag Patel Gene: plxnb2 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.8 PLXNB2 Chirag Patel gene: PLXNB2 was added
gene: PLXNB2 was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXNB2 were set to PMID: 38458752
Phenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related
Review for gene: PLXNB2 was set to GREEN
gene: PLXNB2 was marked as current diagnostic
Added comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease.

PLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice.
Sources: Literature
Amelogenesis imperfecta v1.7 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis imperfecta MONDO:0019507, COL17A1-related
Amelogenesis imperfecta v1.6 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v1.5 COL17A1 Zornitza Stark edited their review of gene: COL17A1: Added comment: 19 unrelated individuals reported with het variants in this gene (several LoF) and isolated amelogenesis imperfecta.; Changed publications: 37979963; Changed phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Amelogenesis imperfecta MONDO:0019507, COL17A1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v1.5 SP6 Zornitza Stark Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104
Amelogenesis imperfecta v1.4 SP6 Zornitza Stark edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104
Amelogenesis imperfecta v1.4 Zornitza Stark List of related panels changed from to Amelogenesis imperfecta; HP:0000705
Amelogenesis imperfecta v1.3 DSPP Zornitza Stark Marked gene: DSPP as ready
Amelogenesis imperfecta v1.3 DSPP Zornitza Stark Gene: dspp has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.3 DSPP Chirag Patel Classified gene: DSPP as Green List (high evidence)
Amelogenesis imperfecta v1.3 DSPP Chirag Patel Gene: dspp has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.2 DSPP Chirag Patel gene: DSPP was added
gene: DSPP was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to PMID: 18456718, 11175779
Phenotypes for gene: DSPP were set to Dentinogenesis imperfecta, Shields type II, OMIM #125490
Review for gene: DSPP was set to GREEN
Added comment: Dentinogenesis imperfecta presents with blue-gray/amber brown and opalescent teeth, bulbous crowns, narrow roots, small/obliterated pulp chambers and root canals, and split enamel. Heterozygous mutations in DSPP gene identified in 5 families. Dspp knockout mice developed tooth defects similar to those of human DGI-III, including enlarged pulp chambers, increased width of predentin zone, hypomineralization, and pulp exposure
Sources: Literature
Amelogenesis imperfecta v1.0 Zornitza Stark promoted panel to version 1.0
Amelogenesis imperfecta v0.72 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Amelogenesis imperfecta v0.72 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.72 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Amelogenesis imperfecta v0.71 Zornitza Stark removed gene:TUFT1 from the panel
Amelogenesis imperfecta v0.70 TP63 Zornitza Stark Marked gene: TP63 as ready
Amelogenesis imperfecta v0.70 TP63 Zornitza Stark Gene: tp63 has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.70 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta to Split-hand/foot malformation 4, MIM# 605289
Amelogenesis imperfecta v0.69 TP63 Zornitza Stark Publications for gene: TP63 were set to
Amelogenesis imperfecta v0.68 TP63 Zornitza Stark reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: 22065540; Phenotypes: Split-hand/foot malformation 4, MIM# 605289; Mode of inheritance: None
Amelogenesis imperfecta v0.68 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Amelogenesis imperfecta v0.68 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.68 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from amelogenesis imperfecta to Congenital disorder of glycosylation, type IIk, MIM# 614727; amelogenesis imperfecta
Amelogenesis imperfecta v0.67 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: RED; Mode of pathogenicity: None; Publications: 22683087; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.67 SMARCD2 Zornitza Stark reviewed gene: SMARCD2: Rating: RED; Mode of pathogenicity: None; Publications: 28369036; Phenotypes: Specific granule deficiency 2, MIM# 617475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.67 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Amelogenesis imperfecta v0.67 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.67 SP6 Zornitza Stark Marked gene: SP6 as ready
Amelogenesis imperfecta v0.67 SP6 Zornitza Stark Gene: sp6 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.67 SP6 Zornitza Stark Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574
Amelogenesis imperfecta v0.66 SP6 Zornitza Stark Classified gene: SP6 as Green List (high evidence)
Amelogenesis imperfecta v0.66 SP6 Zornitza Stark Gene: sp6 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.65 SP6 Zornitza Stark edited their review of gene: SP6: Changed rating: GREEN
Amelogenesis imperfecta v0.65 SP6 Zornitza Stark reviewed gene: SP6: Rating: ; Mode of pathogenicity: None; Publications: 18297738, 32167558, 18156176, 22676574, 33652941; Phenotypes: Amelogenesis imperfecta; Mode of inheritance: None
Amelogenesis imperfecta v0.65 LAMC2 Zornitza Stark Classified gene: LAMC2 as Green List (high evidence)
Amelogenesis imperfecta v0.65 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.64 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Amelogenesis imperfecta v0.64 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v0.64 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700 to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Amelogenesis imperfecta v0.63 LAMC2 Zornitza Stark Mode of inheritance for gene: LAMC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.62 LAMC2 Zornitza Stark edited their review of gene: LAMC2: Changed publications: 26956061
Amelogenesis imperfecta v0.62 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.62 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Amelogenesis imperfecta v0.62 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.62 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta to Heimler syndrome; Amelogenesis imperfecta
Amelogenesis imperfecta v0.61 PEX26 Zornitza Stark Publications for gene: PEX26 were set to 28944237
Amelogenesis imperfecta v0.60 PEX26 Zornitza Stark Classified gene: PEX26 as Green List (high evidence)
Amelogenesis imperfecta v0.60 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.59 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944237, 33926089; Phenotypes: Heimler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.59 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Amelogenesis imperfecta v0.59 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.59 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia) to Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Amelogenesis imperfecta v0.58 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.57 ITGB4 Zornitza Stark Classified gene: ITGB4 as Green List (high evidence)
Amelogenesis imperfecta v0.57 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.56 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.56 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Amelogenesis imperfecta v0.56 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.56 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190; Amelogenesis imperfecta
Amelogenesis imperfecta v0.55 CLDN19 Zornitza Stark Classified gene: CLDN19 as Green List (high evidence)
Amelogenesis imperfecta v0.55 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.54 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400; Phenotypes: Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.54 CLDN16 Zornitza Stark Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta to Hypomagnesaemia 3, renal, MIM# 248250; Amelogenesis imperfecta
Amelogenesis imperfecta v0.53 CLDN16 Zornitza Stark edited their review of gene: CLDN16: Changed phenotypes: Hypomagnesaemia 3, renal, MIM# 248250; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.53 CLDN16 Zornitza Stark Marked gene: CLDN16 as ready
Amelogenesis imperfecta v0.53 CLDN16 Zornitza Stark Gene: cldn16 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.53 CLDN16 Zornitza Stark Phenotypes for gene: CLDN16 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta
Amelogenesis imperfecta v0.52 CLDN16 Zornitza Stark Classified gene: CLDN16 as Green List (high evidence)
Amelogenesis imperfecta v0.52 CLDN16 Zornitza Stark Gene: cldn16 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.51 CLDN16 Zornitza Stark reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912; Phenotypes: Hypomagnesemia 3, renal, MIM# 248250; Mode of inheritance: None
Amelogenesis imperfecta v0.51 C4orf26 Zornitza Stark Marked gene: C4orf26 as ready
Amelogenesis imperfecta v0.51 C4orf26 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name: ODAPH
Amelogenesis imperfecta v0.51 C4orf26 Zornitza Stark Gene: c4orf26 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.51 C4orf26 Zornitza Stark Tag new gene name tag was added to gene: C4orf26.
Amelogenesis imperfecta v0.51 AMTN Zornitza Stark Mode of pathogenicity for gene: AMTN was changed from None to Other
Amelogenesis imperfecta v0.50 AMTN Zornitza Stark Mode of pathogenicity for gene: AMTN was changed from to None
Amelogenesis imperfecta v0.49 AMTN Zornitza Stark Marked gene: AMTN as ready
Amelogenesis imperfecta v0.49 AMTN Zornitza Stark Gene: amtn has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.49 AMTN Zornitza Stark Phenotypes for gene: AMTN were changed from dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, 617607; Amelogenesis imperfecta, hypomaturation type to Amelogenesis imperfecta, type IIIB
Amelogenesis imperfecta v0.48 AMTN Zornitza Stark Publications for gene: AMTN were set to 27412008
Amelogenesis imperfecta v0.47 AMTN Zornitza Stark Classified gene: AMTN as Red List (low evidence)
Amelogenesis imperfecta v0.47 AMTN Zornitza Stark Gene: amtn has been classified as Red List (Low Evidence).
Amelogenesis imperfecta v0.46 AMTN Zornitza Stark reviewed gene: AMTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Amelogenesis imperfecta v0.46 WDR72 Zornitza Stark Marked gene: WDR72 as ready
Amelogenesis imperfecta v0.46 WDR72 Zornitza Stark Gene: wdr72 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.46 WDR72 Zornitza Stark Phenotypes for gene: WDR72 were changed from Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI to Amelogenesis imperfecta, type IIA3, MIM# 613211
Amelogenesis imperfecta v0.45 WDR72 Zornitza Stark reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: None; Publications: 21196691, 27259663, 20938048, 26502894, 23293580, 25008349, 19853237; Phenotypes: Amelogenesis imperfecta, type IIA3, MIM# 613211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.45 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Amelogenesis imperfecta v0.45 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.45 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from Immunodeficiency 10, 612783 to Immunodeficiency 10, MIM# 612783; Hypomineralised amelogenesis imperfecta
Amelogenesis imperfecta v0.44 STIM1 Zornitza Stark Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182
Amelogenesis imperfecta v0.43 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.43 SLC24A4 Zornitza Stark Marked gene: SLC24A4 as ready
Amelogenesis imperfecta v0.43 SLC24A4 Zornitza Stark Gene: slc24a4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.43 SLC24A4 Zornitza Stark Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta to Amelogenesis imperfecta, type IIA5, MIM# 615887
Amelogenesis imperfecta v0.42 SLC24A4 Zornitza Stark changed review comment from: At least 3 families and a mouse model.; to: Multiple families and a mouse model.
Amelogenesis imperfecta v0.42 SLC24A4 Zornitza Stark edited their review of gene: SLC24A4: Changed publications: 23375655, 24621671, 25442250, 24532815, 26502894, 27129268
Amelogenesis imperfecta v0.42 SLC24A4 Zornitza Stark reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375655, 24621671; Phenotypes: Amelogenesis imperfecta, type IIA5, MIM# 615887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.42 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Amelogenesis imperfecta v0.42 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.42 SLC13A5 Zornitza Stark Phenotypes for gene: SLC13A5 were changed from Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Amelogenesis imperfecta v0.41 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Amelogenesis imperfecta v0.41 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.41 SLC10A7 Zornitza Stark Phenotypes for gene: SLC10A7 were changed from short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363)
Amelogenesis imperfecta v0.40 ROGDI Zornitza Stark Marked gene: ROGDI as ready
Amelogenesis imperfecta v0.40 ROGDI Zornitza Stark Gene: rogdi has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.40 ROGDI Zornitza Stark Phenotypes for gene: ROGDI were changed from Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750 to Kohlschutter-Tonz syndrome MIM #226750; Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta v0.39 RELT Zornitza Stark Marked gene: RELT as ready
Amelogenesis imperfecta v0.39 RELT Zornitza Stark Gene: relt has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.39 RELT Zornitza Stark Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 to Amelogenesis imperfecta, type IIIC, MIM# 618386
Amelogenesis imperfecta v0.38 RELT Zornitza Stark reviewed gene: RELT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30506946; Phenotypes: Amelogenesis imperfecta, type IIIC, MIM# 618386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.38 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Amelogenesis imperfecta v0.38 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.38 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863 to Heimler syndrome 2, MIM# 616617
Amelogenesis imperfecta v0.37 PEX6 Zornitza Stark Publications for gene: PEX6 were set to 26387595; 27302843; 16530715
Amelogenesis imperfecta v0.36 PEX6 Zornitza Stark reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387595, 27633571, 27302843; Phenotypes: Heimler syndrome 2, MIM# 616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.36 PEX1 Zornitza Stark edited their review of gene: PEX1: Changed publications: 26387595, 27633571, 27302843
Amelogenesis imperfecta v0.36 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Amelogenesis imperfecta v0.36 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.36 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta to Heimler syndrome 1, MIM# 234580
Amelogenesis imperfecta v0.35 PEX1 Zornitza Stark reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heimler syndrome 1, MIM# 234580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.35 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Amelogenesis imperfecta v0.35 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.35 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 to Immunodeficiency 9, MIM# 612782; Hypocalcified amelogenesis imperfecta
Amelogenesis imperfecta v0.34 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26469693, 16582901, 20004786; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: None
Amelogenesis imperfecta v0.34 MMP20 Zornitza Stark Marked gene: MMP20 as ready
Amelogenesis imperfecta v0.34 MMP20 Zornitza Stark Gene: mmp20 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.34 MMP20 Zornitza Stark Phenotypes for gene: MMP20 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive to Amelogenesis imperfecta, type IIA2, MIM# 612529
Amelogenesis imperfecta v0.33 MMP20 Zornitza Stark reviewed gene: MMP20: Rating: GREEN; Mode of pathogenicity: None; Publications: 23625376, 26124219, 28659819, 19966041, 26502894, 28473773, 23355523, 18096894, 16246936, 15744043; Phenotypes: Amelogenesis imperfecta, type IIA2, MIM# 612529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.33 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Amelogenesis imperfecta v0.33 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.33 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Amelogenesis imperfecta v0.32 LAMB3 Zornitza Stark edited their review of gene: LAMB3: Changed publications: 23958762, 7706760, 23632796, 26502894, 27220909, 25769099, 24494736
Amelogenesis imperfecta v0.32 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.32 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Amelogenesis imperfecta v0.32 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.32 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660
Amelogenesis imperfecta v0.31 LAMA3 Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.30 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Laryngoonychocutaneous syndrome, MIM# 245660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.30 KLK4 Zornitza Stark Marked gene: KLK4 as ready
Amelogenesis imperfecta v0.30 KLK4 Zornitza Stark Gene: klk4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.30 KLK4 Zornitza Stark Phenotypes for gene: KLK4 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700 to Amelogenesis imperfecta, type IIA1, MIM# 204700
Amelogenesis imperfecta v0.29 KLK4 Zornitza Stark Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678
Amelogenesis imperfecta v0.28 KLK4 Zornitza Stark reviewed gene: KLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15235027, 23355523, 28611678, 27066511; Phenotypes: Amelogenesis imperfecta, type IIA1, MIM# 204700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.28 ITGB6 Zornitza Stark Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098
Amelogenesis imperfecta v0.27 ITGB6 Zornitza Stark Marked gene: ITGB6 as ready
Amelogenesis imperfecta v0.27 ITGB6 Zornitza Stark Gene: itgb6 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.27 ITGB6 Zornitza Stark Phenotypes for gene: ITGB6 were changed from Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221 to Amelogenesis imperfecta, type IH, MIM# 616221
Amelogenesis imperfecta v0.26 ITGB6 Zornitza Stark reviewed gene: ITGB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24305999, 24319098; Phenotypes: Amelogenesis imperfecta, type IH, MIM# 616221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.26 GPR68 Zornitza Stark Marked gene: GPR68 as ready
Amelogenesis imperfecta v0.26 GPR68 Zornitza Stark Gene: gpr68 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.26 GPR68 Zornitza Stark Phenotypes for gene: GPR68 were changed from Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 to Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217
Amelogenesis imperfecta v0.25 GPR68 Zornitza Stark Publications for gene: GPR68 were set to 27693231
Amelogenesis imperfecta v0.24 FAM83H Zornitza Stark Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361
Amelogenesis imperfecta v0.23 FAM83H Zornitza Stark Marked gene: FAM83H as ready
Amelogenesis imperfecta v0.23 FAM83H Zornitza Stark Gene: fam83h has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.23 FAM83H Zornitza Stark Phenotypes for gene: FAM83H were changed from Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI to Amelogenesis imperfecta, type IIIA MIM#130900
Amelogenesis imperfecta v0.22 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Amelogenesis imperfecta v0.22 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.22 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775 to Raine syndrome MIM#259775; hypoplastic Amelogenesis Imperfecta
Amelogenesis imperfecta v0.21 FAM20A Zornitza Stark Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045
Amelogenesis imperfecta v0.20 FAM20A Zornitza Stark Marked gene: FAM20A as ready
Amelogenesis imperfecta v0.20 FAM20A Zornitza Stark Gene: fam20a has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.20 FAM20A Zornitza Stark Phenotypes for gene: FAM20A were changed from Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Amelogenesis imperfecta v0.19 ENAM Zornitza Stark Marked gene: ENAM as ready
Amelogenesis imperfecta v0.19 ENAM Zornitza Stark Gene: enam has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.19 ENAM Zornitza Stark Phenotypes for gene: ENAM were changed from Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650
Amelogenesis imperfecta v0.18 ENAM Zornitza Stark Publications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571
Amelogenesis imperfecta v0.17 ENAM Zornitza Stark reviewed gene: ENAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487571, 28334996, 14684688, 33864320; Phenotypes: Amelogenesis imperfecta, type IB, MIM# 104500, Amelogenesis imperfecta, type IC, MIM# 204650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.17 DLX3 Zornitza Stark Marked gene: DLX3 as ready
Amelogenesis imperfecta v0.17 DLX3 Zornitza Stark Gene: dlx3 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.17 DLX3 Zornitza Stark Phenotypes for gene: DLX3 were changed from amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510 to Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320
Amelogenesis imperfecta v0.16 DLX3 Zornitza Stark Publications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018
Amelogenesis imperfecta v0.15 DLX3 Zornitza Stark reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299, 18203197; Phenotypes: Amelogenesis imperfecta, type IV, MIM# 104510, Trichodontoosseous syndrome, MIM# 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v0.15 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Amelogenesis imperfecta v0.15 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.15 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.14 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.13 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.12 COL17A1 Zornitza Stark commented on gene: COL17A1: This type of EB has prominent dental involvement, including enamel pitting.
Amelogenesis imperfecta v0.12 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.12 CNNM4 Zornitza Stark Publications for gene: CNNM4 were set to 19200527; 19200525
Amelogenesis imperfecta v0.11 CNNM4 Zornitza Stark changed review comment from: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization.

At least 8 unrelated families reported.; to: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization.

>100 affected individuals reported.
Amelogenesis imperfecta v0.11 CNNM4 Zornitza Stark edited their review of gene: CNNM4: Changed publications: 19200527, 19200525, 30705057
Amelogenesis imperfecta v0.11 CNNM4 Zornitza Stark Marked gene: CNNM4 as ready
Amelogenesis imperfecta v0.11 CNNM4 Zornitza Stark Gene: cnnm4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.11 CNNM4 Zornitza Stark Phenotypes for gene: CNNM4 were changed from cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta) to Jalili syndrome, MIM#217080; cone-rod dystrophy and amelogenesis imperfecta
Amelogenesis imperfecta v0.10 CNNM4 Zornitza Stark Publications for gene: CNNM4 were set to
Amelogenesis imperfecta v0.9 CNNM4 Zornitza Stark reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200527, 19200525; Phenotypes: Jalili syndrome, MIM# 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.9 C4orf26 Zornitza Stark Marked gene: C4orf26 as ready
Amelogenesis imperfecta v0.9 C4orf26 Zornitza Stark Gene: c4orf26 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.9 C4orf26 Zornitza Stark Phenotypes for gene: C4orf26 were changed from Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta to Amelogenesis Imperfecta, Type IIA4, MIM#614832; hypomineralized amelogenesis imperfecta
Amelogenesis imperfecta v0.8 C4orf26 Zornitza Stark reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901946, 27558265; Phenotypes: Amelogenesis imperfecta, type IIA4, MIM# 614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.8 AMELX Zornitza Stark Marked gene: AMELX as ready
Amelogenesis imperfecta v0.8 AMELX Zornitza Stark Gene: amelx has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.8 AMELX Zornitza Stark Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI
Amelogenesis imperfecta v0.7 AMELX Zornitza Stark Tag SV/CNV tag was added to gene: AMELX.
Amelogenesis imperfecta v0.7 AMELX Zornitza Stark reviewed gene: AMELX: Rating: GREEN; Mode of pathogenicity: None; Publications: 1916828, 15111628, 23251683; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Amelogenesis imperfecta v0.7 AMBN Zornitza Stark Marked gene: AMBN as ready
Amelogenesis imperfecta v0.7 AMBN Zornitza Stark Gene: ambn has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.7 AMBN Zornitza Stark Phenotypes for gene: AMBN were changed from Amelogenesis imperfecta, type IF, 616270 to Amelogenesis imperfecta, type IF, MIM#616270
Amelogenesis imperfecta v0.6 AMBN Zornitza Stark Publications for gene: AMBN were set to 24858907; 26502894
Amelogenesis imperfecta v0.5 AMBN Zornitza Stark Mode of inheritance for gene: AMBN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.4 AMBN Zornitza Stark reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31402633, 30174330; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.4 ACP4 Zornitza Stark Marked gene: ACP4 as ready
Amelogenesis imperfecta v0.4 ACP4 Zornitza Stark Gene: acp4 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.4 ACP4 Zornitza Stark Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, MIM#617297; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.3 ACP4 Zornitza Stark Publications for gene: ACP4 were set to 28513613; 27843125
Amelogenesis imperfecta v0.2 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Amelogenesis imperfecta v0.2 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v0.2 LTBP3 Zornitza Stark Publications for gene: LTBP3 were set to 28084688; 25669657
Amelogenesis imperfecta v0.1 LTBP3 Zornitza Stark reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM# 601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall changed review comment from: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous mutation of exon 5 of the KCNJ1.; to: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1.
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall reviewed gene: KCNJ1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23341834; Phenotypes: Amelogenesis imperfecta, Bartter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall changed review comment from: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- in mice did not recapitulate the human phenotype.; to: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype.
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall reviewed gene: AMTN: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 27412008, 25715379, 26620968; Phenotypes: hypomineralised amelogenesis imperfecta, ?Amelogenesis imperfecta, type IIIB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v0.1 AMBN Belinda Chong reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24858907, 26502894; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 GPR68 Elena Savva reviewed gene: GPR68: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27693231, 32279993; Phenotypes: Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 SLC13A5 Teresa Zhao reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 ROGDI Naomi Baker reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22424600, 29153277, 25565929; Phenotypes: Kohlschutter-Tonz syndrome MIM #226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 ACP4 Belinda Chong edited their review of gene: ACP4: Changed rating: GREEN
Amelogenesis imperfecta v0.1 FAM83H Elena Savva reviewed gene: FAM83H: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 19407157; Phenotypes: Amelogenesis imperfecta, type IIIA MIM#130900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amelogenesis imperfecta v0.1 ACP4 Belinda Chong reviewed gene: ACP4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 27843125, 33552707; Phenotypes: Amelogenesis imperfecta, type IJ MIM#617297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 FAM20C Elena Savva reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17924334, 25928877, 24026952; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 SLC10A7 Teresa Zhao reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30082715; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 FAM20A Elena Savva reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 Zornitza Stark Panel types changed to Rare Disease
Amelogenesis imperfecta v0.0 TUFT1 Zornitza Stark gene: TUFT1 was added
gene: TUFT1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUFT1 were set to 7919663
Phenotypes for gene: TUFT1 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087
Phenotypes for gene: TMEM165 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475
Amelogenesis imperfecta v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 23341834
Phenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200
Amelogenesis imperfecta v0.0 SP6 Zornitza Stark gene: SP6 was added
gene: SP6 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574
Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta
Amelogenesis imperfecta v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 28944237
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta
Amelogenesis imperfecta v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LAMC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LAMC2 were set to 26956061
Phenotypes for gene: LAMC2 were set to Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700
Amelogenesis imperfecta v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ITGB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)
Amelogenesis imperfecta v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 27530400
Phenotypes for gene: CLDN19 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 26426912
Phenotypes for gene: CLDN16 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 AMTN Zornitza Stark gene: AMTN was added
gene: AMTN was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMTN were set to 27412008
Phenotypes for gene: AMTN were set to dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, 617607; Amelogenesis imperfecta, hypomaturation type
Amelogenesis imperfecta v0.0 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 21196691; 27259663; 20938048; 26502894; 23293580; 25008349; 19853237
Phenotypes for gene: WDR72 were set to Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI
Amelogenesis imperfecta v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783
Amelogenesis imperfecta v0.0 SLC24A4 Zornitza Stark gene: SLC24A4 was added
gene: SLC24A4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A4 were set to 24621671; 25442250; 24532815; 26502894; 27129268; 23375655
Phenotypes for gene: SLC24A4 were set to Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27261973; 26384929; 27600704; 24995870
Phenotypes for gene: SLC13A5 were set to Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 29878199; 30082715
Phenotypes for gene: SLC10A7 were set to short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis
Amelogenesis imperfecta v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROGDI were set to 22482807; 28651123; 3236364; 22424600; 25565929; 23086778
Phenotypes for gene: ROGDI were set to Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750
Amelogenesis imperfecta v0.0 RELT Zornitza Stark gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386
Amelogenesis imperfecta v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 26387595; 27302843; 16530715
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863
Amelogenesis imperfecta v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 26387595; 27633571; 27302843
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta
Amelogenesis imperfecta v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 26469693; 16582901; 20004786
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782
Amelogenesis imperfecta v0.0 MMP20 Zornitza Stark gene: MMP20 was added
gene: MMP20 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP20 were set to 23625376; 26124219; 28659819; 19966041; 26502894; 28473773; 23355523; 18096894; 16246936; 15744043
Phenotypes for gene: MMP20 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive
Amelogenesis imperfecta v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP3 were set to 28084688; 25669657
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Amelogenesis imperfecta v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMB3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMB3 were set to 23958762; 7706760; 23632796; 26502894; 27220909; 25769099; 24494736
Phenotypes for gene: LAMB3 were set to Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Mode of pathogenicity for gene: LAMB3 was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMA3 were set to 22434185; 26502894; 27827380
Phenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type
Amelogenesis imperfecta v0.0 KLK4 Zornitza Stark gene: KLK4 was added
gene: KLK4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678
Phenotypes for gene: KLK4 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700
Amelogenesis imperfecta v0.0 ITGB6 Zornitza Stark gene: ITGB6 was added
gene: ITGB6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098
Phenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221
Amelogenesis imperfecta v0.0 GPR68 Zornitza Stark gene: GPR68 was added
gene: GPR68 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPR68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR68 were set to 27693231
Phenotypes for gene: GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Amelogenesis imperfecta v0.0 FAM83H Zornitza Stark gene: FAM83H was added
gene: FAM83H was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM83H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361
Phenotypes for gene: FAM83H were set to Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI
Mode of pathogenicity for gene: FAM83H was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 24982027; 20825432; 24458843; 20453638; 25928877; 27667191; 23325605; 27862258; 19250384; 17924334; 24039075
Phenotypes for gene: FAM20C were set to hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775
Amelogenesis imperfecta v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045
Phenotypes for gene: FAM20A were set to Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
Amelogenesis imperfecta v0.0 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant
Amelogenesis imperfecta v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018
Phenotypes for gene: DLX3 were set to amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510
Amelogenesis imperfecta v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL17A1 were set to 26502894; 27558265; 8669466; 16820943
Phenotypes for gene: COL17A1 were set to non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta)
Amelogenesis imperfecta v0.0 C4orf26 Zornitza Stark gene: C4orf26 was added
gene: C4orf26 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946; 27558265
Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMELX 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: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698; 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMBN Zornitza Stark gene: AMBN was added
gene: AMBN was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMBN were set to 24858907; 26502894
Phenotypes for gene: AMBN were set to Amelogenesis imperfecta, type IF, 616270
Amelogenesis imperfecta v0.0 ACP4 Zornitza Stark gene: ACP4 was added
gene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP4 were set to 28513613; 27843125
Phenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 Zornitza Stark Added panel Amelogenesis imperfecta