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Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson changed review comment from: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence.
Sources: Literature; to: A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Marked gene: CCDC91 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Classified gene: CCDC91 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.131 CCDC91 Bryony Thompson gene: CCDC91 was added
gene: CCDC91 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC91 were set to 38627542
Phenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047
Review for gene: CCDC91 was set to AMBER
Added comment: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.130 FAM83G Zornitza Stark Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Palmoplantar Keratoderma and Erythrokeratoderma v0.129 FAM83G Zornitza Stark reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.129 COL14A1 Zornitza Stark Phenotypes for gene: COL14A1 were changed from Punctate palmoplantar keratoderma type 1B to Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
Palmoplantar Keratoderma and Erythrokeratoderma v0.128 KDSR Zornitza Stark Publications for gene: KDSR were set to 28774589; 30467204; 28575652
Palmoplantar Keratoderma and Erythrokeratoderma v0.127 KDSR Achchuthan Shanmugasundram reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34686882; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.127 Zornitza Stark HPO terms changed from to Palmoplantar keratoderma, HP:0000982; Erythrokeratoderma, MONDO:0019270
List of related panels changed from to Palmoplantar keratoderma; HP:0000982; Erythrokeratoderma; MONDO:0019270
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Palmoplantar Keratoderma and Erythrokeratoderma v0.125 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.124 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Gene: gjb3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
Palmoplantar Keratoderma and Erythrokeratoderma v0.122 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.121 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.120 GJB2 Chirag Patel reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.120 GJB3 Chirag Patel reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.120 KLF4 Zornitza Stark Mode of inheritance for gene: KLF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.119 KLF4 Elena Savva Classified gene: KLF4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.119 KLF4 Elena Savva Gene: klf4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.119 KLF4 Elena Savva Classified gene: KLF4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.119 KLF4 Elena Savva Gene: klf4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.118 KLF4 Elena Savva Marked gene: KLF4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.118 KLF4 Elena Savva Gene: klf4 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.118 KLF4 Elena Savva gene: KLF4 was added
gene: KLF4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF4 were set to PMID: 35168889; 10431239
Phenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Review for gene: KLF4 was set to GREEN
Added comment: PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.
Functional studies on patient skin biopsy shows "slightly but significantly decreased" protein expression in both children.
Gene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.

PMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function

gnomAD: single het fs in the population
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Marked gene: RSPO1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.117 RSPO1 Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Palmoplantar Keratoderma and Erythrokeratoderma v0.116 RSPO1 Zornitza Stark Publications for gene: RSPO1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.115 RSPO1 Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 RSPO1 Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Classified gene: FAM111B as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.114 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.113 FAM111B Bryony Thompson gene: FAM111B was added
gene: FAM111B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236
Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mode of pathogenicity for gene: FAM111B was set to Other
Review for gene: FAM111B was set to GREEN
gene: FAM111B was marked as current diagnostic
Added comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. The condition is characterised by the skin findings of poikiloderma, hypohidrosis, hypotrichosis , mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Mechanism of disease is unknown, but is expected to be dominant-negative effect.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.112 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM4 were set to 30528822
Phenotypes for gene: TRPM4 were set to Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Review for gene: TRPM4 was set to RED
Added comment: Two unrelated families reported with missense variants.
Sources: Expert Review
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark Marked gene: KRT83 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark Gene: krt83 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark gene: KRT83 was added
gene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review
Mode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT83 were set to 27965375
Phenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
Review for gene: KRT83 was set to RED
Added comment: Single family reported.
Sources: Expert Review
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark changed review comment from: At least 3 families reported.; to: At least 3 families reported. Missense variants.

Note bi-allelic LoF variants are associated with immune dysregulation.
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Phenotypes for gene: RHBDF2 were changed from to Tylosis with oesophageal cancer, MIM# 148500
Palmoplantar Keratoderma and Erythrokeratoderma v0.109 RHBDF2 Zornitza Stark Publications for gene: RHBDF2 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.108 RHBDF2 Zornitza Stark Mode of inheritance for gene: RHBDF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 RHBDF2 Zornitza Stark reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770; Phenotypes: Tylosis with esophageal cancer, MIM# 148500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Palmoplantar Keratoderma and Erythrokeratoderma v0.106 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.105 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.105 COL14A1 Zornitza Stark Marked gene: COL14A1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.105 COL14A1 Zornitza Stark Gene: col14a1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.105 SMARCAD1 Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from Basan syndrome (MIM#129200) to Basan syndrome, MIM#129200; Huriez syndrome, OMIM #181600
Palmoplantar Keratoderma and Erythrokeratoderma v0.104 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.104 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.104 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Palmoplantar Keratoderma and Erythrokeratoderma v0.103 NLRP1 Chirag Patel Classified gene: NLRP1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.103 NLRP1 Chirag Patel Gene: nlrp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.102 NLRP1 Chirag Patel gene: NLRP1 was added
gene: NLRP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NLRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP1 were set to PMID: 27662089
Phenotypes for gene: NLRP1 were set to Palmoplantar carcinoma, multiple self-healing, OMIM # 615225
Review for gene: NLRP1 was set to GREEN
Added comment: Multiple self-healing palmoplantar carcinoma (MSPC) is characterised by recurrent keratoacanthomas in palmoplantar skin and conjunctival and corneal epithelia. Patients experience a high susceptibility to malignant squamous cell carcinoma.

Zhong et al. (2016) reported 3 families with variants in NLRP1
a) Affected mother and son with MSPC from a Caucasian French family. Whole exome sequencing (+ Sanger sequencing) identified a heterozygous missense mutation in NLRP1 gene (M77T), that appeared de novo in the mother and segregated with disease in the family. The variant was not found in 672 controls or 61 exome-sequenced subjects' DNA.
b) Large 5-generation Tunisian family segregating autosomal dominant MSPC. Whole exome sequencing identified a heterozygous missense mutation in exon 1 of NLRP1 gene (A54T), that segregated with disease in 16 family members.
c) 4-generation kindred with MSPC. Sanger sequencing of NLRP1 exon 1 identified heterozygosity for a missense mutation (A66V, that segregated with disease in the family.
d) 2 sibs in a consanguineous family with features of MSPC, with homozygous in-frame deletion in NLRP1 gene.
Functional analysis demonstrated that all 3 MSPC-associated missense mutations are gain-of-function variants that cause increased inflammasome activation.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.101 SMARCAD1 Chirag Patel Classified gene: SMARCAD1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.101 SMARCAD1 Chirag Patel Gene: smarcad1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.100 SMARCAD1 Chirag Patel reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29409814; Phenotypes: Huriez syndrome, OMIM #181600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.100 COL14A1 Chirag Patel gene: COL14A1 was added
gene: COL14A1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: COL14A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL14A1 were set to PMID: 22972947
Phenotypes for gene: COL14A1 were set to Punctate palmoplantar keratoderma type 1B
Review for gene: COL14A1 was set to RED
Added comment: 4 affected individuals and 2 unaffected controls from one Chinese PPPK family where disease locus was mapped at 8q24.13-8q24.21 by previous linkage analysis. Exome sequencing analysis identified a heterozygous variant in COL14A1 gene (c.4505C>T (p.Pro1502Leu)). The variant was shared by 4 affected individuals, but not 2 controls of the family. Sanger sequencing confirmed this variant in another four cases from this family. Variant was absent in the normal controls of this family as well as 676 unrelated normal controls and 781 patients with other disease. The missense substitution occurs at a highly conserved amino acid residue across multiple species.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 LOR Bryony Thompson Tag new gene name tag was added to gene: LOR.
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Palmoplantar Keratoderma and Erythrokeratoderma v0.98 PERP Zornitza Stark Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Palmoplantar Keratoderma and Erythrokeratoderma v0.97 PERP Zornitza Stark Publications for gene: PERP were set to PMID: 31898316
Palmoplantar Keratoderma and Erythrokeratoderma v0.96 PERP Zornitza Stark Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.95 PERP Zornitza Stark Classified gene: PERP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.95 PERP Zornitza Stark Gene: perp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.94 PERP Zornitza Stark Deleted their comment
Palmoplantar Keratoderma and Erythrokeratoderma v0.94 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair. Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.94 ASPRV1 Zornitza Stark Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, MIM# 146750; palmoplantar keratoderma; lamellar ichthyosis
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 ASPRV1 Zornitza Stark reviewed gene: ASPRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, lamellar, autosomal dominant, MIM# 146750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Marked gene: LOR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Classified gene: LOR as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Classified gene: KRT2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Zornitza Stark reviewed gene: KRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 LOR Paul De Fazio gene: LOR was added
gene: LOR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LOR were set to 11703298; 9326323; 8673107; 9326398; 25234742
Phenotypes for gene: LOR were set to Vohwinkel syndrome with ichthyosis MIM#604117
Review for gene: LOR was set to GREEN
gene: LOR was marked as current diagnostic
Added comment: Multiple families reported (14, as of PMID:25234742). Honeycomb palmoplantar keratoderma (PPK) and generalized, mild ichthyosis are characteristic.

From OMIM: Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Paul De Fazio gene: KRT2 was added
gene: KRT2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. 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 22612346; 26581228; 17970808
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Review for gene: KRT2 was set to AMBER
gene: KRT2 was marked as current diagnostic
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.

PPK is not a feature of this disease. However, according to Cervantes et al (PMID: 22612346): "Another important difference between EI [epidermolytic ichthyosis] and SEI is palmoplantar keratoderma (PPK), which affects 60% of patients with EI but is never seen with SEI. Although blistering usually spares the palms and soles in SEI, some patients have shown involvement, making it difficult to determine the clinical difference between this and PPK in EI." One case report is in PMID: 17970808.

I don't know if this belongs on this panel.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Marked gene: CTSC as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Classified gene: CTSC as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio changed review comment from: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature; to: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio gene: CYP4F22 was added
gene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP4F22 were set to 16436457; 18034255; 32069299
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777
Review for gene: CYP4F22 was set to AMBER
gene: CYP4F22 was marked as current diagnostic
Added comment: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CTSC Paul De Fazio gene: CTSC was added
gene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 11106356; 32601924
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000)
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 MBTPS2 Ain Roesley gene: MBTPS2 was added
gene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Penetrance for gene: MBTPS2 were set to unknown
Review for gene: MBTPS2 was set to GREEN
Added comment: Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome.

Erythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Marked gene: CSTA as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed publications: 23534700, 21944047, 25400170, 12890214
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 4 #607936
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio changed review comment from: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature; to: Associated with peeling skin syndrome (at least 4 families). Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio gene: CSTA was added
gene: CSTA was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 21944047; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 #607936
gene: CSTA was marked as current diagnostic
Added comment: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Classified gene: CERS3 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Marked gene: EBP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Classified gene: NIPAL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Marked gene: CDSN as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Classified gene: PKP1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Classified gene: PNPLA1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Marked gene: POMP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio changed review comment from: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature; to: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1, PMID: 30578701 1 patient in Figure 1, PMID: 23754960 1 patient).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio gene: CERS3 was added
gene: CERS3 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23754960; 30578701; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
Review for gene: CERS3 was set to GREEN
gene: CERS3 was marked as current diagnostic
Added comment: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 EBP Belinda Chong gene: EBP was added
gene: EBP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10391218; 11038443; 12509714
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant 302960
Added comment: Multiple unrelated individuals with mutations in the EBP (PMID:10391218, 11038443; 12509714)

PMID: 7363504
Manzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

PMID: 12509714
Affected females had typical skin manifestations an all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NIPAL4 Ain Roesley gene: NIPAL4 was added
gene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIPAL4 were set to 30578701
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
Penetrance for gene: NIPAL4 were set to unknown
Review for gene: NIPAL4 was set to GREEN
Added comment: PMID: 30578701;
- 5 families all consanguineous with 3 unique variants
- 4 have erythroderma and all 5 have PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NSDHL Ain Roesley gene: NSDHL was added
gene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 15689440; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome (MIM#308050)
Penetrance for gene: NSDHL were set to unknown
Review for gene: NSDHL was set to GREEN
Added comment: CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

PMID: 15689440;26459993; GeneReviews
- Over 20 variants reported.

*affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews)
*expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio edited their review of gene: CDSN: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 1 MIM#270300
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio gene: CDSN was added
gene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300
gene: CDSN was marked as current diagnostic
Added comment: Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema.

At least 4 unrelated individuals reported, all with LoF variants.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PKP1 Ain Roesley gene: PKP1 was added
gene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PKP1 were set to 32248567
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Penetrance for gene: PKP1 were set to unknown
Review for gene: PKP1 was set to GREEN
Added comment: PMID: 32248567
- 16 out of 18 probands presented with PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PNPLA1 Ain Roesley gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 30578701
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Penetrance for gene: PNPLA1 were set to unknown
Review for gene: PNPLA1 was set to GREEN
Added comment: PMID: 30578701;
- 19 consanguineous families with 13 unique variants
- all had erythroderma, 12 had PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 POMP Ain Roesley gene: POMP was added
gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 20226437; 27503413; 29315485
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Penetrance for gene: POMP were set to unknown
Review for gene: POMP was set to GREEN
Added comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar
keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists.

PMID: 20226437;
Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated)

PMID: 27503413;
1x proband from consanguineous parents

PMID: 29315485;
1x proband

*All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP
c.-95del
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SDR9C7 Ain Roesley gene: SDR9C7 was added
gene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 30578701; 31633189
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Penetrance for gene: SDR9C7 were set to unknown
Review for gene: SDR9C7 was set to GREEN
Added comment: PMID: 30578701;
3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma

PMID: 31633189;
All 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 ELOVL4 Naomi Baker gene: ELOVL4 was added
gene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956.
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190
Review for gene: ELOVL4 was set to GREEN
Added comment: In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley changed review comment from: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature; to: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley gene: SPINK5 was added
gene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 11841556
Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)
Penetrance for gene: SPINK5 were set to unknown
Review for gene: SPINK5 was set to GREEN
Added comment: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Added comment: Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis.
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Classified gene: STS as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Classified gene: ABHD5 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Added comment: Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel.
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Classified gene: SULT2B1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Marked gene: KRT9 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Gene: krt9 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Phenotypes for gene: KRT9 were changed from to Palmoplantar keratoderma, epidermolytic (MIM#144200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.70 KRT9 Zornitza Stark Publications for gene: KRT9 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.69 KRT9 Zornitza Stark Mode of inheritance for gene: KRT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Marked gene: TAT as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II (MIM#276600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.67 TAT Zornitza Stark Publications for gene: TAT were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.66 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Classified gene: TGM1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark Tag founder tag was added to gene: VPS33B.
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017832, 30561130; Phenotypes: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Marked gene: KRT6C as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Gene: krt6c has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Palmoplantar Keratoderma and Erythrokeratoderma v0.62 KRT6C Zornitza Stark Publications for gene: KRT6C were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.61 KRT6C Zornitza Stark Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Marked gene: SASH1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Classified gene: SASH1 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Marked gene: KRT6B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Gene: krt6b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)
Palmoplantar Keratoderma and Erythrokeratoderma v0.58 KRT6B Zornitza Stark Publications for gene: KRT6B were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.57 KRT6B Zornitza Stark Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Patients all present with hyperkeratosis.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 STS Ain Roesley gene: STS was added
gene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: STS were set to PMID: 29672931
Phenotypes for gene: STS were set to Ichthyosis, X-linked (MIM#308100)
Penetrance for gene: STS were set to unknown
Review for gene: STS was set to AMBER
Added comment: PMID: 29672931;
- cohort of 35 Italian patients
- 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are
- 27x with complete STS gene deletion
- 1x partial deletion leading to loss of exon 7
- 7x (including 3 pairs of siblings) had missense variants

* STS patients usually present with brownish thickened scales
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio changed review comment from: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature; to: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio gene: ABHD5 was added
gene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 16181472
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630)
Review for gene: ABHD5 was set to RED
gene: ABHD5 was marked as current diagnostic
Added comment: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 SULT2B1 Ain Roesley gene: SULT2B1 was added
gene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Penetrance for gene: SULT2B1 were set to unknown
Review for gene: SULT2B1 was set to AMBER
Added comment: PMID: 28575648;
- 6 affecteds in 3 families (including 2 consanguineous)
- In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI
- in family 2: 1x presented with hyperkeratosis and erythema.
- in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth.
> 2x missense, 1x PTV and 1x splice

PMID: 30578701;
- 2 families reported, both homozygous for a missense
- both presented with palmoplantar keratoderma and only 1 reported with erythroderma
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT9 Paul De Fazio reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 29044727, 7512862; Phenotypes: Palmoplantar keratoderma, epidermolytic (MIM#144200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TAT Ain Roesley reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31799120, 21145993, 18945316; Phenotypes: Tyrosinemia, type II (MIM#276600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TGM1 Ain Roesley gene: TGM1 was added
gene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM1 were set to 19890349; 24261627; 30302839
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Penetrance for gene: TGM1 were set to unknown
Review for gene: TGM1 was set to GREEN
Added comment: PMID: 19890349;
- 1x patient with mild palmoplantar keratoderma in her fissures
> cHet for c.877-2A>G and p.(Arg307Gly)

PMID: 24261627;
- 11x Ecuadorian patients
- All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia
> both missense and PTVs reported

PMID: 30302839;
- 1x Japanese man with severe lamellar ichthyosis
- his other clinical findings include palmoplantar keratoderma
> cHet for 2 missense
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 VPS33B Ain Roesley gene: VPS33B was added
gene: VPS33B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 28017832; 30561130
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome
Penetrance for gene: VPS33B were set to unknown
Review for gene: VPS33B was set to AMBER
Added comment: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B

PMID: 28017832;
- 3x Austrian patients with assumed distant consanguinity
- severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness
> 2x homozygous for p.(Gly131Glu), whereas 1x patient cHet for p.(Gly131Glu) and the splice site mutation c.240-1G>C previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome

PMID: 30561130;
- 1x patient with ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature
> cHet for p.(Arg481Glyfs*11) and p.(Gly131Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT6C Ain Roesley reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2 (MIM#167210)
Palmoplantar Keratoderma and Erythrokeratoderma v0.55 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.54 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Marked gene: SERPINB7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Gene: serpinb7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)
Palmoplantar Keratoderma and Erythrokeratoderma v0.52 SERPINB7 Zornitza Stark Publications for gene: SERPINB7 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.51 SERPINB7 Zornitza Stark Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.50 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to 14674887; 32157724; 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.49 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, MIM#248300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Marked gene: SLURP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Gene: slurp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)
Palmoplantar Keratoderma and Erythrokeratoderma v0.47 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.46 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SASH1 Paul De Fazio gene: SASH1 was added
gene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
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 Dyschromatosis universalis hereditaria 1 (MIM#127500)
Review for gene: SASH1 was set to RED
gene: SASH1 was marked as current diagnostic
Added comment: Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT6B Ain Roesley reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2 (MIM#167210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SERPINB7 Paul De Fazio reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio changed review comment from: Association with Meleda disease is well supported. Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."; to: Association with Meleda disease is well supported (>10 families). Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Marked gene: KDSR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Palmoplantar Keratoderma and Erythrokeratoderma v0.44 KDSR Zornitza Stark Publications for gene: KDSR were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.43 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 KDSR Zornitza Stark reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Marked gene: SMARCAD1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Classified gene: SMARCAD1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 SMARCAD1 Paul De Fazio gene: SMARCAD1 was added
gene: SMARCAD1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome (MIM#129200)
Review for gene: SMARCAD1 was set to AMBER
gene: SMARCAD1 was marked as current diagnostic
Added comment: Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.

Two families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.

Amber in PanelApp GEL
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Gene: krt16 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.40 KRT16 Zornitza Stark Publications for gene: KRT16 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.39 KRT16 Zornitza Stark Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)
Palmoplantar Keratoderma and Erythrokeratoderma v0.37 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.36 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Marked gene: JUP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease (MIM#601214)
Palmoplantar Keratoderma and Erythrokeratoderma v0.34 JUP Zornitza Stark Publications for gene: JUP were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.33 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Tag founder tag was added to gene: KANK2.
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Classified gene: KANK2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Palmoplantar Keratoderma and Erythrokeratoderma v0.30 GJB6 Zornitza Stark Publications for gene: GJB6 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.29 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Palmoplantar Keratoderma and Erythrokeratoderma v0.27 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.26 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Marked gene: FAM83G as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Classified gene: FAM83G as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Cole disease (MIM#615522)
Palmoplantar Keratoderma and Erythrokeratoderma v0.23 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.22 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Marked gene: CAST as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Palmoplantar Keratoderma and Erythrokeratoderma v0.20 CAST Zornitza Stark Publications for gene: CAST were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.19 CAST Zornitza Stark Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.17 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.16 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark edited their review of gene: TRPV3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594
Palmoplantar Keratoderma and Erythrokeratoderma v0.14 TRPV3 Zornitza Stark Publications for gene: TRPV3 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.13 TRPV3 Zornitza Stark Mode of pathogenicity for gene: TRPV3 was changed from to Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.12 TRPV3 Zornitza Stark Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 SNAP29 Paul De Fazio reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 15968592, 21073448, 25958742, 29051910; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Marked gene: AAGAB as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Gene: aagab has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.10 AAGAB Zornitza Stark Publications for gene: AAGAB were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.9 AAGAB Zornitza Stark Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT16 Naomi Baker reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT14 Ain Roesley reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 16960809, 19040520; Phenotypes: Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000), Dermatopathia pigmentosa reticularis (MIM#125595); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 JUP Naomi Baker reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10902626, 20130592; Phenotypes: Naxos disease (MIM#601214); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley changed review comment from: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature; to: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*caution: disease association doesnt have ? in OMIM
*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley gene: KANK2 was added
gene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
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 Palmoplantar keratoderma and woolly hair (MIM#616099)
Penetrance for gene: KANK2 were set to unknown
Review for gene: KANK2 was set to RED
Added comment: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJB6 Ain Roesley reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23219093, 19416251, 27137747; Phenotypes: Ectodermal dysplasia 2, Clouston type (MIM# 129500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJA1 Ain Roesley reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25398053, 25168385, 30811667; Phenotypes: Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100), Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 FAM83G Ain Roesley gene: FAM83G was added
gene: FAM83G was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to PMID: 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy
Penetrance for gene: FAM83G were set to unknown
Review for gene: FAM83G was set to RED
Added comment: PMID: 29138053;
- 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair
- progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years
> homozygous for a missense p.(Ala34Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ENPP1 Ain Roesley reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 32598042; Phenotypes: Cole disease (MIM#615522); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CAST Ain Roesley reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CARD14 Ain Roesley reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 AAGAB Ain Roesley reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ASPRV1 Zornitza Stark Marked gene: ASPRV1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ASPRV1 Zornitza Stark Gene: asprv1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ASPRV1 Zornitza Stark Classified gene: ASPRV1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ASPRV1 Zornitza Stark Gene: asprv1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 ASPRV1 Ee Ming Wong gene: ASPRV1 was added
gene: ASPRV1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASPRV1 were set to PMID: 32516568
Phenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis
Review for gene: ASPRV1 was set to GREEN
gene: ASPRV1 was marked as current diagnostic
Added comment: -3 heterozygous missense variants identified across 4 unrelated kindreds
-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Marked gene: PERP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Added comment: Comment when marking as ready: One family and a mouse model, upgrade to Amber.
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Classified gene: PERP as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.6 PERP Chirag Patel gene: PERP was added
gene: PERP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERP were set to PMID: 31898316
Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet
Review for gene: PERP was set to RED
Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP.

A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Gene: krt6a has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)
Palmoplantar Keratoderma and Erythrokeratoderma v0.4 KRT6A Zornitza Stark Publications for gene: KRT6A were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.3 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from to Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.2 KRT6A Zornitza Stark Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.1 KRT6A Zornitza Stark reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.1 Zornitza Stark Panel name changed from Palmoplantar keratoderma and erythrokeratoderma_VCGS to Palmoplantar Keratoderma and Erythrokeratoderma
Panel types changed to Victorian Clinical Genetics Services
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 TRPV3 Zornitza Stark gene: TRPV3 was added
gene: TRPV3 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV3 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAT was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNAP29 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 SLURP1 Zornitza Stark gene: SLURP1 was added
gene: SLURP1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLURP1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 SERPINB7 Zornitza Stark gene: SERPINB7 was added
gene: SERPINB7 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINB7 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 RSPO1 Zornitza Stark gene: RSPO1 was added
gene: RSPO1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPO1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 RHBDF2 Zornitza Stark gene: RHBDF2 was added
gene: RHBDF2 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHBDF2 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT9 Zornitza Stark gene: KRT9 was added
gene: KRT9 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT9 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT6C Zornitza Stark gene: KRT6C was added
gene: KRT6C was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT6C was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT6B Zornitza Stark gene: KRT6B was added
gene: KRT6B was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT6B was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT6A Zornitza Stark gene: KRT6A was added
gene: KRT6A was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT6A was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT17 Zornitza Stark gene: KRT17 was added
gene: KRT17 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT17 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT16 Zornitza Stark gene: KRT16 was added
gene: KRT16 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT16 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT14 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT10 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT1 Zornitza Stark gene: KRT1 was added
gene: KRT1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KDSR Zornitza Stark gene: KDSR was added
gene: KDSR was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDSR was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JUP was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 GJB6 Zornitza Stark gene: GJB6 was added
gene: GJB6 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB6 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 GJB4 Zornitza Stark gene: GJB4 was added
gene: GJB4 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB4 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 GJB3 Zornitza Stark gene: GJB3 was added
gene: GJB3 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB3 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB2 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ENPP1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSP was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 DSG1 Zornitza Stark gene: DSG1 was added
gene: DSG1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSG1 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSC2 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 CAST Zornitza Stark gene: CAST was added
gene: CAST was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAST was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 CARD14 Zornitza Stark gene: CARD14 was added
gene: CARD14 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARD14 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 AQP5 Zornitza Stark gene: AQP5 was added
gene: AQP5 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AQP5 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALOXE3 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALOX12B was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 AAGAB Zornitza Stark gene: AAGAB was added
gene: AAGAB was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AAGAB was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 Zornitza Stark Added panel Palmoplantar keratoderma and erythrokeratoderma_VCGS