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Ichthyosis and erythrokeratoderma v1.3 Sarah Leigh Panel version has been signed off
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty commented on gene: LOR
Ichthyosis and erythrokeratoderma v1.0 Catherine Snow promoted panel to version 1.0
Ichthyosis and erythrokeratoderma v0.19 Catherine Snow List of related panels changed from to R165
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Added comment: Comment on list classification: Sufficient number of variants in OMIM to rate as Green
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM to promote to Green
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Classified gene: PIGL as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Added comment: Comment on list classification: Sufficient cases identified in OMIM
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Classified gene: CLDN1 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.14 LOR Catherine Snow Publications for gene: LOR were set to
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Classified gene: LOR as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Added comment: Comment on list classification: Sufficient number of variants identified in the literature to classify as Green.
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Gene: lor has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.12 FLG Catherine Snow Publications for gene: FLG were set to
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Classified gene: FLG as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Added comment: Comment on list classification: Sufficient evidence and phenotype to be relevant as Green in the panel
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Gene: flg has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.10 SPINK5 Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 PIGL Catherine Snow reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG2 Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 CLDN1 Catherine Snow reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG Catherine Snow reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 LOR Catherine Snow reviewed gene: LOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 MSMO1 Catherine Snow reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 KRT2 Catherine Snow reviewed gene: KRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.9 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 PIGL Catherine Snow gene: PIGL was added
gene: PIGL was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 CLDN1 Catherine Snow gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG Catherine Snow gene: FLG was added
gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 LOR Catherine Snow gene: LOR was added
gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 MSMO1 Catherine Snow gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 KRT2 Catherine Snow gene: KRT2 was added
gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.4 POMP Ellen McDonagh Tag promoter tag was added to gene: POMP.
Ichthyosis and erythrokeratoderma v0.4 SMARCAD1 Ellen McDonagh Tag watchlist tag was added to gene: SMARCAD1.
Ichthyosis and erythrokeratoderma v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV3 were set to 25285920
Phenotypes for gene: TRPV3 were set to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594
Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 TGM1 Ellen McDonagh gene: TGM1 was added
gene: TGM1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300
Ichthyosis and erythrokeratoderma v0.3 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v0.3 SULT2B1 Ellen McDonagh gene: SULT2B1 was added
gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571
Ichthyosis and erythrokeratoderma v0.3 STS Ellen McDonagh gene: STS was added
gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: STS were set to Ichthyosis, X-linked, 308100
Ichthyosis and erythrokeratoderma v0.3 ST14 Ellen McDonagh gene: ST14 was added
gene: ST14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
Ichthyosis and erythrokeratoderma v0.3 SNAP29 Ellen McDonagh gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 25958742; 21073448; 15968592
Phenotypes for gene: SNAP29 were set to CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v0.3 SMARCAD1 Ellen McDonagh gene: SMARCAD1 was added
gene: SMARCAD1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 24909267; 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome, 129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 SLURP1 Ellen McDonagh gene: SLURP1 was added
gene: SLURP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLURP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLURP1 were set to 16865292; 24738704; 14756676; 9887370; 25557416; 12483299; 24985918; 19692209; 17184264; 24604124; 16882192; 15026760; 11285253; 21690549; 23290002; 19120323
Phenotypes for gene: SLURP1 were set to keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300
Ichthyosis and erythrokeratoderma v0.3 SLC27A4 Ellen McDonagh gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
Ichthyosis and erythrokeratoderma v0.3 SERPINB7 Ellen McDonagh gene: SERPINB7 was added
gene: SERPINB7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB7 were set to 27666198; 26926003; 24207119; 25788444; 24514002; 24773080; 25940237; 26763456; 25029323; 28211129
Phenotypes for gene: SERPINB7 were set to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598
Ichthyosis and erythrokeratoderma v0.3 SDR9C7 Ellen McDonagh gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574
Ichthyosis and erythrokeratoderma v0.3 SASH1 Ellen McDonagh gene: SASH1 was added
gene: SASH1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASH1 were set to 25315659
Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma and skin carcinoma
Ichthyosis and erythrokeratoderma v0.3 RSPO1 Ellen McDonagh gene: RSPO1 was added
gene: RSPO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO1 were set to palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v0.3 RHBDF2 Ellen McDonagh gene: RHBDF2 was added
gene: RHBDF2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHBDF2 were set to 22265016; 22638770
Phenotypes for gene: RHBDF2 were set to Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Mode of pathogenicity for gene: RHBDF2 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 POMP Ellen McDonagh gene: POMP was added
gene: POMP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 27503413; 20226437
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
Ichthyosis and erythrokeratoderma v0.3 PNPLA1 Ellen McDonagh gene: PNPLA1 was added
gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024
Ichthyosis and erythrokeratoderma v0.3 NIPAL4 Ellen McDonagh gene: NIPAL4 was added
gene: NIPAL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281
Ichthyosis and erythrokeratoderma v0.3 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Publications for gene: MT-TS1 were set to 9450881
Phenotypes for gene: MT-TS1 were set to Keratoderma, Palmoplantar, with deafness; palmoplantar keratoderma with deafness
Ichthyosis and erythrokeratoderma v0.3 MBTPS2 Ellen McDonagh gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 22931912; 24313295
Phenotypes for gene: MBTPS2 were set to X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome); ?Olmsted syndrome, X-linked, 300918; IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Ichthyosis and erythrokeratoderma v0.3 LIPN Ellen McDonagh gene: LIPN was added
gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPN were set to 21439540
Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943
Ichthyosis and erythrokeratoderma v0.3 LIPH Ellen McDonagh gene: LIPH was added
gene: LIPH was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPH was set to
Phenotypes for gene: LIPH were set to Woolly hair/hypotrichosis syndrome
Ichthyosis and erythrokeratoderma v0.3 KRT9 Ellen McDonagh gene: KRT9 was added
gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199
Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v0.3 KRT6C Ellen McDonagh gene: KRT6C was added
gene: KRT6C was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6C were set to 19609311
Phenotypes for gene: KRT6C were set to Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails
Mode of pathogenicity for gene: KRT6C was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 KRT6B Ellen McDonagh gene: KRT6B was added
gene: KRT6B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6B were set to 16250204; 9618173
Phenotypes for gene: KRT6B were set to pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4
Ichthyosis and erythrokeratoderma v0.3 KRT6A Ellen McDonagh gene: KRT6A was added
gene: KRT6A was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6A were set to 16250204; 7545493; 22098151
Phenotypes for gene: KRT6A were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v0.3 KRT17 Ellen McDonagh gene: KRT17 was added
gene: KRT17 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT17 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KRT17 were set to 15102078; 22336949; 9008238; 7539673; 19659471
Phenotypes for gene: KRT17 were set to Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2
Ichthyosis and erythrokeratoderma v0.3 KRT16 Ellen McDonagh gene: KRT16 was added
gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673
Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 9804355
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v0.3 KRT1 Ellen McDonagh gene: KRT1 was added
gene: KRT1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT1 were set to 12406346; 11286630; 7528239
Phenotypes for gene: KRT1 were set to Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma
Ichthyosis and erythrokeratoderma v0.3 KDSR Ellen McDonagh gene: KDSR was added
gene: KDSR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28575652
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, 617526
Ichthyosis and erythrokeratoderma v0.3 KANK2 Ellen McDonagh gene: KANK2 was added
gene: KANK2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 24671081
Phenotypes for gene: KANK2 were set to PPKWH; Palmoplantar keratoderma and woolly hair, 616099
Ichthyosis and erythrokeratoderma v0.3 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 20130592; 10902626; 21668431
Phenotypes for gene: JUP were set to WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v0.3 ISCA-37417-Loss Ellen McDonagh Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to 308100; Ichthyosis, X-linked
Ichthyosis and erythrokeratoderma v0.3 GJB6 Ellen McDonagh gene: GJB6 was added
gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 8845850; 11874494
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v0.3 GJB4 Ellen McDonagh gene: GJB4 was added
gene: GJB4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB4 were set to 22266302; 21950330; 26826093; 23037955
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis et progressiva 2, 617524
Ichthyosis and erythrokeratoderma v0.3 GJB3 Ellen McDonagh gene: GJB3 was added
gene: GJB3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJB3 were set to 12019212; 9843209; 21564177; 10594760
Phenotypes for gene: GJB3 were set to Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v0.3 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 25388818; 25964267; 25168385; 16891658; 17256797; 25398053
Phenotypes for gene: GJA1 were set to keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma
Mode of pathogenicity for gene: GJA1 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 FAM83G Ellen McDonagh gene: FAM83G was added
gene: FAM83G was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma with leukonychia and abundant curly hair
Ichthyosis and erythrokeratoderma v0.3 ENPP1 Ellen McDonagh gene: ENPP1 was added
gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683
Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Ichthyosis and erythrokeratoderma v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398
Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v0.3 DSG2 Ellen McDonagh gene: DSG2 was added
gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair
Ichthyosis and erythrokeratoderma v0.3 DSG1 Ellen McDonagh gene: DSG1 was added
gene: DSG1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 27534273
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700
Ichthyosis and erythrokeratoderma v0.3 DSC2 Ellen McDonagh gene: DSC2 was added
gene: DSC2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 18957847
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v0.3 DES Ellen McDonagh gene: DES was added
gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I
Ichthyosis and erythrokeratoderma v0.3 CYP4F22 Ellen McDonagh gene: CYP4F22 was added
gene: CYP4F22 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Ichthyosis and erythrokeratoderma v0.3 CERS3 Ellen McDonagh gene: CERS3 was added
gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23549421; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Ichthyosis and erythrokeratoderma v0.3 CAST Ellen McDonagh gene: CAST was added
gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
Ichthyosis and erythrokeratoderma v0.3 CARD14 Ellen McDonagh gene: CARD14 was added
gene: CARD14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 AQP5 Ellen McDonagh gene: AQP5 was added
gene: AQP5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AQP5 were set to 23830519; 27255181; 23867895
Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma, Bothnian type, 600231
Ichthyosis and erythrokeratoderma v0.3 ALOXE3 Ellen McDonagh gene: ALOXE3 was added
gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v0.3 ALOX12B Ellen McDonagh gene: ALOX12B was added
gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617
Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ABCA12 Ellen McDonagh gene: ABCA12 was added
gene: ABCA12 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277
Ichthyosis and erythrokeratoderma v0.3 AAGAB Ellen McDonagh gene: AAGAB was added
gene: AAGAB was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AAGAB were set to 23563198; 24289292; 23000146; 23064416
Phenotypes for gene: AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma
Ichthyosis and erythrokeratoderma v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Ichthyosis and erythrokeratoderma v0.0 Ellen McDonagh Added Panel Ichthyosis and erythrokeratoderma
Set panel types to: GMS Rare Disease