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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 v0.129 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 v0.126 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
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 v0.118 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 v0.102 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 v0.100 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 v0.91 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 v0.88 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 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 v0.86 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 v0.76 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 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 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 v0.73 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 v0.68 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 v0.56 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 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 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 v0.45 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 v0.41 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 v0.21 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 v0.11 AAGAB Zornitza Stark Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)
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 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 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 v0.6 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 v0.0 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