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Severe Paediatric Disorders v1.46 TMEM38B Arina Puzriakova Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV, 615066 to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Severe Paediatric Disorders v0.17 ERF Louise Daugherty Mode of inheritance for gene ERF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 C4orf26 Louise Daugherty edited their review of gene: C4orf26: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ODAPH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amelogenesis imperfecta, type IIA4, 614832 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ERF Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ERF Louise Daugherty Publications for gene ERF were updated from to 30847515
Severe Paediatric Disorders v0.10 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.10 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.10 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.10 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.10 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.10 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.10 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.10 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.10 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.10 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.10 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.10 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.10 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.10 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.10 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.10 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.10 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.10 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.10 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.10 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.10 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.10 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.10 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.9 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.9 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.9 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.9 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.9 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.9 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.9 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.9 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.9 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.9 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.9 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.9 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.9 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.9 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.9 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.9 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.9 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.9 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.9 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.9 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.9 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.9 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.9 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.9 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.8 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.8 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.8 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.8 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.8 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.8 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.8 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.8 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.8 MT-TP Louise Daugherty Added phenotypes MERFF SYNDROME; MYOPATHY for gene: MT-TP
Severe Paediatric Disorders v0.8 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205; Osteogenesis imperfecta, type XIX, 301014 for gene: MBTPS2
Severe Paediatric Disorders v0.8 LAMB3 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700 for gene: LAMB3
Severe Paediatric Disorders v0.8 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.8 FTL Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 3, 606159; L-ferritin deficiency, dominant and recessive, 615604; Hyperferritinemia-cataract syndrome, 600886 for gene: FTL
Severe Paediatric Disorders v0.8 FKBP10 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XI, 610968; Bruck syndrome 1, 259450 for gene: FKBP10
Severe Paediatric Disorders v0.8 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.8 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.8 DSPP Louise Daugherty Added phenotypes Dentin dysplasia, type II, 125420; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500 for gene: DSPP
Severe Paediatric Disorders v0.8 DLX3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IV, 104510; Trichodontoosseous syndrome, 190320 for gene: DLX3
Severe Paediatric Disorders v0.8 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.8 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type III, 259420 for gene: COL1A2
Severe Paediatric Disorders v0.8 COL1A1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Caffey disease, 114000 for gene: COL1A1
Severe Paediatric Disorders v0.8 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.8 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.8 WNT1 Louise Daugherty Mode of inheritance for gene WNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.8 TMEM38B Louise Daugherty Mode of inheritance for gene TMEM38B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.8 SLC10A7 Louise Daugherty Mode of inheritance for gene SLC10A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.8 SERPINH1 Louise Daugherty Mode of inheritance for gene SERPINH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.8 SERPINF1 Louise Daugherty Mode of inheritance for gene SERPINF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.7 ERF Louise Daugherty Source Next Generation Children Project was added to ERF.
Severe Paediatric Disorders v0.5 ERF Louise Daugherty Source Expert Review Green was added to ERF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ERF Louise Daugherty gene: ERF was added
gene: ERF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ERF was set to