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Epidermolysis bullosa v1.15 SPINK5 Bryony Thompson Marked gene: SPINK5 as ready
Epidermolysis bullosa v1.15 SPINK5 Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.15 SPINK5 Bryony Thompson Mode of pathogenicity for gene: SPINK5 was changed from Other to None
Epidermolysis bullosa v1.14 SPINK5 Bryony Thompson Classified gene: SPINK5 as Green List (high evidence)
Epidermolysis bullosa v1.14 SPINK5 Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.13 KRT6C Bryony Thompson Marked gene: KRT6C as ready
Epidermolysis bullosa v1.13 KRT6C Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.13 KRT6C Bryony Thompson Classified gene: KRT6C as Green List (high evidence)
Epidermolysis bullosa v1.13 KRT6C Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.12 KRT6B Bryony Thompson Marked gene: KRT6B as ready
Epidermolysis bullosa v1.12 KRT6B Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.12 KRT6B Bryony Thompson Classified gene: KRT6B as Green List (high evidence)
Epidermolysis bullosa v1.12 KRT6B Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.11 KRT6A Bryony Thompson Marked gene: KRT6A as ready
Epidermolysis bullosa v1.11 KRT6A Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.11 KRT6A Bryony Thompson Classified gene: KRT6A as Green List (high evidence)
Epidermolysis bullosa v1.11 KRT6A Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Marked gene: KRT17 as ready
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Classified gene: KRT17 as Green List (high evidence)
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.9 KRT17 Bryony Thompson Mode of pathogenicity for gene: KRT17 was changed from None to Other
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Marked gene: KRT16 as ready
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Classified gene: KRT16 as Green List (high evidence)
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.7 FLG2 Bryony Thompson Deleted their review
Epidermolysis bullosa v1.7 FLG2 Bryony Thompson commented on gene: FLG2
Epidermolysis bullosa v1.7 FLG2 Bryony Thompson Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa v1.7 FLG2 Bryony Thompson Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.6 FLG2 Bryony Thompson Deleted their review
Epidermolysis bullosa v1.5 SPINK5 Sangavi Sivagnanasundram gene: SPINK5 was added
gene: SPINK5 was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 19683336
Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)
Mode of pathogenicity for gene: SPINK5 was set to Other
Review for gene: SPINK5 was set to GREEN
Added comment: Characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels.
Typically caused by either homozygous or compound heterozygous mutations.

PMID: 19683336
9 unrelated children with Comel-Netherton syndrome with homozygous mutations in SPINK5.
Sources: Other
Epidermolysis bullosa v1.5 KRT17 Sangavi Sivagnanasundram gene: KRT17 was added
gene: KRT17 was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT17 were set to 11886499; 21326300
Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210)
Review for gene: KRT17 was set to GREEN
Added comment: Also reported as Jackson-Lawler type syndrome

PMID: 11886499
4 unrelated individuals with pachyonychia congenita like phenotype

PMID: 21326300
Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein
Sources: Other
Epidermolysis bullosa v1.5 KRT16 Sangavi Sivagnanasundram gene: KRT16 was added
gene: KRT16 was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT16 were set to 16250206
Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200)
Mode of pathogenicity for gene: KRT16 was set to Other
Review for gene: KRT16 was set to GREEN
Added comment: PMID: 16250206
Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing.
>5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16.
Sources: Other
Epidermolysis bullosa v1.5 KRT6C Sangavi Sivagnanasundram gene: KRT6C was added
gene: KRT6C was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6C were set to 31823354; 23662636
Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Mode of pathogenicity for gene: KRT6C was set to Other
Review for gene: KRT6C was set to GREEN
Added comment: Phenotype overlap with Pachyonychia congenita (PC)

PMID: 31823354
Approx 23 unrelated families with mutation in KRT6C with phenotypes consistent with pachyonchia congenita

PMID: 23662636
In vitro assay in HaCaT cells showed the overexpression of mutant keratin 6c showed a collapse of the keratin filament network suggestive of dominant negative effect pathogenicity.
Sources: Other
Epidermolysis bullosa v1.5 KRT6B Sangavi Sivagnanasundram gene: KRT6B was added
gene: KRT6B was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6B were set to 24611874; 21326300
Phenotypes for gene: KRT6B were set to Pachyonychia congenita 4 MIM#615728
Mode of pathogenicity for gene: KRT6B was set to Other
Review for gene: KRT6B was set to GREEN
Added comment: Previously known as Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2
Mutants are found to have a dominant-negative most of pathogenicity.

PMID: 24611874
Multiple families with either plantar keratoderma or palmopantar keratoderma phenotypes with a mutation in KRT6B

PMID: 21326300
The most common reported mutation K6b p.Glu472Lys in families with KRT6B-related Pachyonychia congenita
Sources: Other
Epidermolysis bullosa v1.5 KRT6A Sangavi Sivagnanasundram gene: KRT6A was added
gene: KRT6A was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6A were set to 32017015; 21326300
Phenotypes for gene: KRT6A were set to Pachyonychia congenita 3 MIM#615726
Mode of pathogenicity for gene: KRT6A was set to Other
Review for gene: KRT6A was set to GREEN
Added comment: Well established gene-disease association.

Multiple families reported with hyperkeratotic disorders with skin fragility like symptoms.
p.Asn172del is the most common mutation identified in families with Pachyonychia congenita
Sources: Other
Epidermolysis bullosa v1.5 Zornitza Stark HPO terms changed from to Abnormal blistering of the skin, HP:0008066
List of related panels changed from to Abnormal blistering of the skin; HP:0008066
Epidermolysis bullosa v1.4 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Absent B cells; Agammaglobulinemia; Early onset infections to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Absent B cells; Agammaglobulinemia; Early onset infections
Epidermolysis bullosa v1.3 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: None
Epidermolysis bullosa v1.3 CD151 Zornitza Stark edited their review of gene: CD151: Changed rating: GREEN
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871; 29229434
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Gene: dsg1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.1 DSG1 Chern Lim reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29229434; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Epidermolysis bullosa v1.1 DSG3 Zornitza Stark Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Epidermolysis bullosa v1.0 DSG3 Zornitza Stark edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Epidermolysis bullosa v1.0 Zornitza Stark promoted panel to version 1.0
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Epidermolysis bullosa v0.86 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Epidermolysis bullosa v0.85 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.84 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
Epidermolysis bullosa v0.83 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Epidermolysis bullosa v0.82 LAMA3 Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.81 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Epidermolysis bullosa v0.80 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Epidermolysis bullosa v0.79 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.78 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Epidermolysis bullosa v0.77 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Epidermolysis bullosa v0.76 LAMC2 Zornitza Stark Mode of inheritance for gene: LAMC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.75 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11810295, 25888738, 24533970; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Epidermolysis bullosa v0.74 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.73 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Marked gene: KLHL24 as ready
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294
Epidermolysis bullosa v0.72 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to
Epidermolysis bullosa v0.71 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.70 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889062, 27798626; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
Epidermolysis bullosa v0.69 PKP1 Zornitza Stark Publications for gene: PKP1 were set to
Epidermolysis bullosa v0.68 PKP1 Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.67 PKP1 Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730
Epidermolysis bullosa v0.66 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Epidermolysis bullosa v0.65 ITGA6 Zornitza Stark Mode of inheritance for gene: ITGA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.64 ITGA6 Zornitza Stark reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Epidermolysis bullosa v0.63 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Epidermolysis bullosa v0.62 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.61 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Epidermolysis bullosa v0.60 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Epidermolysis bullosa v0.59 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.58 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Marked gene: EXPH5 as ready
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Gene: exph5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Epidermolysis bullosa v0.57 EXPH5 Zornitza Stark Publications for gene: EXPH5 were set to
Epidermolysis bullosa v0.56 EXPH5 Zornitza Stark Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.55 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.55 DST Zornitza Stark Marked gene: DST as ready
Epidermolysis bullosa v0.55 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.55 DST Zornitza Stark Phenotypes for gene: DST were changed from to Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425
Epidermolysis bullosa v0.54 DST Zornitza Stark Publications for gene: DST were set to
Epidermolysis bullosa v0.53 DST Zornitza Stark Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.52 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20164846, 22113475, 33471381; Phenotypes: Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Marked gene: PLEC as ready
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from to Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type, MIM# 131950
Epidermolysis bullosa v0.51 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.50 PLEC Zornitza Stark reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type, MIM# 131950; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.50 DSP Zornitza Stark Marked gene: DSP as ready
Epidermolysis bullosa v0.50 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.50 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Epidermolysis bullosa v0.49 DSP Zornitza Stark Publications for gene: DSP were set to
Epidermolysis bullosa v0.48 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.47 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16175511, 20302578, 20302578, 28442525, 20613772, 20302578; Phenotypes: Epidermolysis bullosa, lethal acantholytic, MIM# 609638; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Epidermolysis bullosa v0.46 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.45 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Classified gene: KRT2 as Green List (high evidence)
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.44 KRT2 Ain Roesley gene: KRT2 was added
gene: KRT2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT2 were set to 26581228; 22612346
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Penetrance for gene: KRT2 were set to unknown
Review for gene: KRT2 was set to GREEN
Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.
SEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age.

PMID: 26581228;
- 7 affecteds in 4 families
> all missense variants

PMID: 22612346;
- 2 families
> missense variants
Sources: Literature
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400
Epidermolysis bullosa v0.43 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, localisata variant, MIM# 226650, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Classified gene: SERPINB8 as Amber List (moderate evidence)
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.41 SERPINB8 Zornitza Stark gene: SERPINB8 was added
gene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115)
Review for gene: SERPINB8 was set to AMBER
Added comment: PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel.
Sources: Expert list
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Marked gene: DSG3 as ready
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG3 were set to 30528827
Phenotypes for gene: DSG3 were set to Mucosal blistering
Review for gene: DSG3 was set to RED
Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Marked gene: CSTB as ready
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Classified gene: CSTB as Amber List (moderate evidence)
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.36 CSTB Zornitza Stark Tag SV/CNV tag was added to gene: CSTB.
Epidermolysis bullosa v0.36 CSTB Ain Roesley gene: CSTB was added
gene: CSTB was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSTB were set to 28457472
Phenotypes for gene: CSTB were set to Keratolytic winter erythema (MIM#148370)
Penetrance for gene: CSTB were set to unknown
Review for gene: CSTB was set to AMBER
Added comment: PMID: 28457472; CNV
- 7 South African families with keratolytic winter erythema. Identified a noncoding 7.67-kb tandem duplication on chromosome 8 that segregated with disease and was not found in 127 controls.
- This region overlaps with an enhancer element which correlated with CTSB expression
- qPCR analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control
Sources: Literature
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.35 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Marked gene: DSG1 as ready
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Classified gene: DSG1 as Amber List (moderate evidence)
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Marked gene: DSC3 as ready
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Marked gene: CSTA as ready
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Marked gene: CDSN as ready
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Paul De Fazio changed review comment from: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature; to: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Marked gene: CAST as ready
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Classified gene: CAST as Green List (high evidence)
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence)
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Marked gene: ATP2C1 as ready
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Red List (low evidence)
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.24 IKBKG Paul De Fazio gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: IKBKG was set to Other
Publications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300)
Review for gene: IKBKG was set to GREEN
gene: IKBKG was marked as current diagnostic
Added comment: Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/). Most pathogenic variants are gene rearrangements or multi-exon deletions.

X-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males).

This gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSG1 Ain Roesley gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 19558595; 23974871
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Penetrance for gene: DSG1 were set to unknown
Review for gene: DSG1 was set to AMBER
Added comment: skin blistering and/or fragility reported in 2 probands

PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)

PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: Literature
Epidermolysis bullosa v0.24 KRT1 Paul De Fazio gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT1 were set to 7511022; 21271994
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis
Review for gene: KRT1 was set to GREEN
gene: KRT1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions).

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSC3 Ain Roesley gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 20159115; 24690439; 31790667
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles (MIM# 613102)
Penetrance for gene: DSC3 were set to unknown
Review for gene: DSC3 was set to AMBER
Added comment: PMID: 19765682;
- large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation
- homozygous for p.(Leu710*)

However, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology.

PMID: 31790667;
- 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma
- homozygous for p.(Leu727*)
- Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay
Sources: Literature
Epidermolysis bullosa v0.24 CSTA Ain Roesley gene: CSTA was added
gene: CSTA was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 25400170; 21944047
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 (MIM#607936)
Penetrance for gene: CSTA were set to unknown
Review for gene: CSTA was set to GREEN
Added comment: PMID: 23534700;
- large consanguineous Jordanian American pedigree with acral peeling skin syndrome (APSS) that affected 10 individuals over four generations.
- homozygous for p(.Lys22*)

PMID: 25400170;
- 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmo plantar peeling of the skin
- homozygous for p.(Arg58T*)

PMID: 21944047;
- 1x consanguineous family of Bedouin origin homoyzgous for c.67-2A>T
-> minigene assays demonstrated skipping of the first 12 base pairs of exon 2 of CSTA
- 1x consanguineous family Turkish origin homozygous for p.(Gln86*)
Sources: Literature
Epidermolysis bullosa v0.24 CDSN Ain Roesley gene: CDSN was added
gene: CDSN was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 (MIM#270300)
Penetrance for gene: CDSN were set to unknown
Review for gene: CDSN was set to GREEN
Added comment: Also known as TypeB

PMID: 23957618;
1x Caucasian female with homozygous p.(Gly142*)

PMID: 20691404;
4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*)

PMID: 21191406;
1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40)

PMID: 25473393;
1x japanese female from consanguineous family with homozygous p.(Ser453Asn)
Sources: Literature
Epidermolysis bullosa v0.24 KRT10 Paul De Fazio gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Review for gene: KRT10 was set to GREEN
gene: KRT10 was marked as current diagnostic
Added comment: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature
Epidermolysis bullosa v0.24 CAST Ain Roesley gene: CAST was added
gene: CAST was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAST were set to 25683118
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
Penetrance for gene: CAST were set to unknown
Review for gene: CAST was set to GREEN
Added comment: PMID: 25683118;

1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)
-> RT-PCR of mRNA from this patient's skin demonstrated NMD
- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)
- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37)
Sources: Literature
Epidermolysis bullosa v0.24 ATP2A2 Ain Roesley gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2A2 were set to 10441324; 17635506
Phenotypes for gene: ATP2A2 were set to Darier disease (MIM#124200)
Penetrance for gene: ATP2A2 were set to unknown
Review for gene: ATP2A2 was set to GREEN
Added comment: Characteristic lesions in DD are hyperkeratotic, erythematous, pruritic plaques that may ulcerate, scale and turn gray, getcrusted, or coalesce into larger lesions.
Acral haemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities.


Haemorrhagic DD described in
PMID: 10441324;
2 unrelated Italian families + 1 scottish family with p.(Asn767Ser)
1 Swedish family with p.(Cys268Phe)

PMID: 17635506;
1 Japanese family with 9 affecteds harbouring p.(Asn767Ser)
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A4 Paul De Fazio gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 19370757
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (MIM#201100)
Review for gene: SLC39A4 was set to GREEN
gene: SLC39A4 was marked as current diagnostic
Added comment: Well-established gene-disease association. PMID:19370757 summarises 22 families with identified biallelic variants as of 2009 (although some families have only one or no variants identified).

Disease is characterised by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous.
Sources: Literature
Epidermolysis bullosa v0.24 ATP2C1 Ain Roesley gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2C1 were set to 28551824
Phenotypes for gene: ATP2C1 were set to Hailey-Hailey disease (MIM# 169600)
Penetrance for gene: ATP2C1 were set to unknown
Review for gene: ATP2C1 was set to GREEN
Added comment: Skin blistering is a feature of Hailey-Hailey disease.

PMID: 28551824;
At least 177 variants reported in this gene for Hailey-Hailey disease
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio changed review comment from: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature; to: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

Phenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections
Review for gene: SLC39A7 was set to RED
gene: SLC39A7 was marked as current diagnostic
Added comment: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype.
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.23 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024
Phenotypes for gene: PLOD3 were set to Blistering skin lesions
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to AMBER
Added comment: Two unrelated families with complex phenotype
-18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years
- 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions

- A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin

As there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association.
Sources: Literature
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Epidermolysis bullosa v0.22 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Epidermolysis bullosa v0.21 KRT14 Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other
Epidermolysis bullosa v0.20 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.19 KRT14 Kristin Rigbye reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Gene: tgm5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM# 609796
Epidermolysis bullosa v0.18 TGM5 Zornitza Stark Publications for gene: TGM5 were set to
Epidermolysis bullosa v0.17 TGM5 Zornitza Stark Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.16 TGM5 Zornitza Stark reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380904; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Marked gene: KDSR as ready
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.15 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.14 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Classified gene: KDSR as Red List (low evidence)
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Classified gene: FLG2 as Red List (low evidence)
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Gene: flg2 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.10 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease MIM#601214; Congenital epidermolysis bullosa to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.9 JUP Zornitza Stark Marked gene: JUP as ready
Epidermolysis bullosa v0.9 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.9 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Publications for gene: JUP were set to 21320868; 29173316
Epidermolysis bullosa v0.8 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.8 JUP Zornitza Stark Publications for gene: JUP were set to
Epidermolysis bullosa v0.7 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6, MIM# 618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 KDSR Bryony Thompson changed review comment from: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.; to: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to be better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson Deleted their review
Epidermolysis bullosa v0.6 KDSR Bryony Thompson reviewed gene: KDSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 4 MIM#617526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Epidermolysis bullosa v0.6 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.5 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Epidermolysis bullosa v0.4 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6 MIM#618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.4 JUP Bryony Thompson reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.4 Zornitza Stark Panel name changed from Epidermolysis bullosa_VCGS to Epidermolysis bullosa
Panel types changed to Victorian Clinical Genetics Services
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Marked gene: CD151 as ready
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.2 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Added comment: Three families described in the literature
Sources: Literature
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Epidermolysis bullosa v0.0 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM5 was set to Unknown
Epidermolysis bullosa v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLEC was set to Unknown
Epidermolysis bullosa v0.0 PKP1 Zornitza Stark gene: PKP1 was added
gene: PKP1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKP1 was set to Unknown
Epidermolysis bullosa v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMC2 was set to Unknown
Epidermolysis bullosa v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMB3 was set to Unknown
Epidermolysis bullosa v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA3 was set to Unknown
Epidermolysis bullosa v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT5 was set to Unknown
Epidermolysis bullosa v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT14 was set to Unknown
Epidermolysis bullosa v0.0 KLHL24 Zornitza Stark gene: KLHL24 was added
gene: KLHL24 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL24 was set to Unknown
Epidermolysis bullosa v0.0 KDSR Zornitza Stark gene: KDSR was added
gene: KDSR was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDSR was set to Unknown
Epidermolysis bullosa v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JUP was set to Unknown
Epidermolysis bullosa v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB4 was set to Unknown
Epidermolysis bullosa v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA6 was set to Unknown
Epidermolysis bullosa v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA3 was set to Unknown
Epidermolysis bullosa v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FERMT1 was set to Unknown
Epidermolysis bullosa v0.0 EXPH5 Zornitza Stark gene: EXPH5 was added
gene: EXPH5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXPH5 was set to Unknown
Epidermolysis bullosa v0.0 DST Zornitza Stark gene: DST was added
gene: DST was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DST was set to Unknown
Epidermolysis bullosa v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSP was set to Unknown
Epidermolysis bullosa v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL7A1 was set to Unknown
Epidermolysis bullosa v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL17A1 was set to Unknown
Epidermolysis bullosa v0.0 Zornitza Stark Added panel Epidermolysis bullosa_VCGS