10 Oct 2022
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
10 Oct 2022
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
19 Apr 2022
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
13 Apr 2022
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
26 Oct 2021
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
07 Jan 2019
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
07 Jan 2019
Epidermolysis bullosa v1.5
CD151
Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Jan 2019
Epidermolysis bullosa v1.4
CD151
Rebecca Foulger Publications for gene: CD151 were set to
31 Oct 2017
Epidermolysis bullosa
KLHL24
Ellen McDonagh marked KLHL24 as ready
31 Oct 2017
Epidermolysis bullosa
KLHL24
Ellen McDonagh classified KLHL24 as green
31 Oct 2017
Epidermolysis bullosa
KLHL24
Ellen McDonagh commented on KLHL24
25 Apr 2017
Epidermolysis bullosa
KLHL24
John McGrath added KLHL24 to panel
25 Apr 2017
Epidermolysis bullosa
KLHL24
John McGrath reviewed KLHL24
25 Apr 2017
Epidermolysis bullosa
Louise Daugherty promoted panel to version 1
24 Apr 2017
Epidermolysis bullosa
FERMT1
Louise Daugherty classified FERMT1 as green
24 Apr 2017
Epidermolysis bullosa
FERMT1
Louise Daugherty commented on FERMT1
24 Apr 2017
Epidermolysis bullosa
TGM5
Louise Daugherty classified TGM5 as green
24 Apr 2017
Epidermolysis bullosa
TGM5
Louise Daugherty commented on TGM5
24 Apr 2017
Epidermolysis bullosa
PKP1
Louise Daugherty classified PKP1 as green
24 Apr 2017
Epidermolysis bullosa
PKP1
Louise Daugherty commented on PKP1
24 Apr 2017
Epidermolysis bullosa
MMP1
Louise Daugherty reviewed MMP1
24 Apr 2017
Epidermolysis bullosa
LAMA3
Louise Daugherty classified LAMA3 as green
24 Apr 2017
Epidermolysis bullosa
LAMA3
Louise Daugherty commented on LAMA3
24 Apr 2017
Epidermolysis bullosa
JUP
Louise Daugherty classified JUP as green
24 Apr 2017
Epidermolysis bullosa
JUP
Louise Daugherty commented on JUP
21 Apr 2017
Epidermolysis bullosa
ITGA3
Louise Daugherty classified ITGA3 as green
21 Apr 2017
Epidermolysis bullosa
ITGA3
Louise Daugherty commented on ITGA3
21 Apr 2017
Epidermolysis bullosa
EXPH5
Louise Daugherty classified EXPH5 as green
21 Apr 2017
Epidermolysis bullosa
EXPH5
Louise Daugherty commented on EXPH5
21 Apr 2017
Epidermolysis bullosa
DST
Louise Daugherty classified DST as green
21 Apr 2017
Epidermolysis bullosa
DST
Louise Daugherty commented on DST
21 Apr 2017
Epidermolysis bullosa
CD151
Louise Daugherty classified CD151 as red
21 Apr 2017
Epidermolysis bullosa
CD151
Louise Daugherty commented on CD151
21 Apr 2017
Epidermolysis bullosa
DSP
Louise Daugherty commented on DSP
21 Apr 2017
Epidermolysis bullosa
PLEC
Louise Daugherty commented on PLEC
21 Apr 2017
Epidermolysis bullosa
LAMC2
Louise Daugherty classified LAMC2 as green
21 Apr 2017
Epidermolysis bullosa
LAMC2
Louise Daugherty commented on LAMC2
21 Apr 2017
Epidermolysis bullosa
LAMB3
Louise Daugherty classified LAMB3 as green
21 Apr 2017
Epidermolysis bullosa
LAMB3
Louise Daugherty commented on LAMB3
20 Apr 2017
Epidermolysis bullosa
KRT14
Louise Daugherty classified KRT14 as green
20 Apr 2017
Epidermolysis bullosa
KRT14
Louise Daugherty commented on KRT14
20 Apr 2017
Epidermolysis bullosa
ITGB4
Louise Daugherty classified ITGB4 as green
20 Apr 2017
Epidermolysis bullosa
ITGB4
Louise Daugherty commented on ITGB4
19 Apr 2017
Epidermolysis bullosa
ITGA6
Louise Daugherty classified ITGA6 as green
19 Apr 2017
Epidermolysis bullosa
ITGA6
Louise Daugherty commented on ITGA6
19 Apr 2017
Epidermolysis bullosa
COL17A1
Louise Daugherty classified COL17A1 as green
19 Apr 2017
Epidermolysis bullosa
COL17A1
Louise Daugherty commented on COL17A1
12 Oct 2016
Epidermolysis bullosa
COL7A1
Ellen McDonagh marked COL7A1 as ready
12 Oct 2016
Epidermolysis bullosa
COL7A1
Ellen McDonagh classified COL7A1 as green
12 Oct 2016
Epidermolysis bullosa
COL7A1
Ellen McDonagh commented on COL7A1