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Epidermolysis bullosa v1.12 Eleanor Williams List of related panels changed from to
Epidermolysis bullosa v1.11 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease, 601214; Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa
Epidermolysis bullosa v1.10 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Lethal acantholytic epidermolysis bullosa; Skin fragility-woolly hair syndrome,607655 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655
Epidermolysis bullosa v1.9 COL17A1 Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Epidermolysis bullosa v1.8 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis Bullosa Simplex With Pyloric Atresia; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis Bullosa Simplex With Muscular Dystrophy to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Epidermolysis bullosa v1.7 COL7A1 Arina Puzriakova Phenotypes for gene: COL7A1 were changed from Dystrophic Epidermolysis Bullosa; Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa dystrophica (AR), 226600; Epidermolysis bullosa, pretibial (AR,AD), 131850; EBD, Bart type (AD), 132000; EBD inversa (AR), 226600; Transient bullous of the newborn (AR,AD), 131705 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600
Epidermolysis bullosa v1.6 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620 to Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa v1.5 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.4 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Epidermolysis bullosa KLHL24 Ellen McDonagh marked KLHL24 as ready
Epidermolysis bullosa KLHL24 Ellen McDonagh classified KLHL24 as green
Epidermolysis bullosa KLHL24 Ellen McDonagh commented on KLHL24
Epidermolysis bullosa KLHL24 John McGrath added KLHL24 to panel
Epidermolysis bullosa KLHL24 John McGrath reviewed KLHL24
Epidermolysis bullosa Louise Daugherty promoted panel to version 1
Epidermolysis bullosa FERMT1 Louise Daugherty classified FERMT1 as green
Epidermolysis bullosa FERMT1 Louise Daugherty commented on FERMT1
Epidermolysis bullosa TGM5 Louise Daugherty classified TGM5 as green
Epidermolysis bullosa TGM5 Louise Daugherty commented on TGM5
Epidermolysis bullosa PKP1 Louise Daugherty classified PKP1 as green
Epidermolysis bullosa PKP1 Louise Daugherty commented on PKP1
Epidermolysis bullosa MMP1 Louise Daugherty reviewed MMP1
Epidermolysis bullosa LAMA3 Louise Daugherty classified LAMA3 as green
Epidermolysis bullosa LAMA3 Louise Daugherty commented on LAMA3
Epidermolysis bullosa JUP Louise Daugherty classified JUP as green
Epidermolysis bullosa JUP Louise Daugherty commented on JUP
Epidermolysis bullosa ITGA3 Louise Daugherty classified ITGA3 as green
Epidermolysis bullosa ITGA3 Louise Daugherty commented on ITGA3
Epidermolysis bullosa EXPH5 Louise Daugherty classified EXPH5 as green
Epidermolysis bullosa EXPH5 Louise Daugherty commented on EXPH5
Epidermolysis bullosa DST Louise Daugherty classified DST as green
Epidermolysis bullosa DST Louise Daugherty commented on DST
Epidermolysis bullosa CD151 Louise Daugherty classified CD151 as red
Epidermolysis bullosa CD151 Louise Daugherty commented on CD151
Epidermolysis bullosa DSP Louise Daugherty commented on DSP
Epidermolysis bullosa PLEC Louise Daugherty commented on PLEC
Epidermolysis bullosa LAMC2 Louise Daugherty classified LAMC2 as green
Epidermolysis bullosa LAMC2 Louise Daugherty commented on LAMC2
Epidermolysis bullosa LAMB3 Louise Daugherty classified LAMB3 as green
Epidermolysis bullosa LAMB3 Louise Daugherty commented on LAMB3
Epidermolysis bullosa KRT14 Louise Daugherty classified KRT14 as green
Epidermolysis bullosa KRT14 Louise Daugherty commented on KRT14
Epidermolysis bullosa ITGB4 Louise Daugherty classified ITGB4 as green
Epidermolysis bullosa ITGB4 Louise Daugherty commented on ITGB4
Epidermolysis bullosa ITGA6 Louise Daugherty classified ITGA6 as green
Epidermolysis bullosa ITGA6 Louise Daugherty commented on ITGA6
Epidermolysis bullosa COL17A1 Louise Daugherty classified COL17A1 as green
Epidermolysis bullosa COL17A1 Louise Daugherty commented on COL17A1
Epidermolysis bullosa COL7A1 Ellen McDonagh marked COL7A1 as ready
Epidermolysis bullosa COL7A1 Ellen McDonagh classified COL7A1 as green
Epidermolysis bullosa COL7A1 Ellen McDonagh commented on COL7A1