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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 v1.2 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 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 v0.59 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 v0.20 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 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 v0.15 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 v0.12 COL17A1 Zornitza Stark commented on gene: COL17A1: This type of EB has prominent dental involvement, including enamel pitting.
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 v0.1 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 v0.0 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 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 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