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  2. Palmoplantar Keratoderma and Erythrokeratoderma

Palmoplantar Keratoderma and Erythrokeratoderma (Version 0.132)

Level 2: Dermatological disorders

Relevant disorders: Palmoplantar keratoderma, HP:0000982; Erythrokeratoderma, MONDO:0019270
Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed by VCGS.

It has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.
Panel Activity

11 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Achchuthan Shanmugasundram (Genomics England)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

69 Entities

61 reviewed, 57 green

List Entity Reviews Mode of inheritance Details
69 Entitiess
Green List (high evidence)
AAGAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA (MIM#148600)
Tags
Green List (high evidence)
ALOX12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Tags
Green List (high evidence)
ALOXE3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AP1S1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome (MIM#609313)
Tags
Green List (high evidence)
AQP5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ASPRV1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis
Tags
Green List (high evidence)
CARD14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pityriasis rubra pilaris (MIM#173200)
Tags
Green List (high evidence)
CAST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Tags
Green List (high evidence)
CDSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1 MIM#270300
Tags
Green List (high evidence)
CERS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
Tags
Green List (high evidence)
CSTA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 4 #607936
Tags
Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Papillon-Lefevre syndrome (MIM#245000)
Tags
Green List (high evidence)
DSC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DSG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DSP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
EBP
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant 302960
Tags
Green List (high evidence)
ELOVL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 34, MIM#133190
Tags
Green List (high evidence)
ENPP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cole disease (MIM#615522)
Tags
Green List (high evidence)
FAM111B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Tags
Green List (high evidence)
GJA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100)
  • Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Tags
Green List (high evidence)
GJB2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
Tags
Green List (high evidence)
GJB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
Tags
Green List (high evidence)
GJB4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GJB6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Tags
Green List (high evidence)
JUP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Naxos disease (MIM#601214)
Tags
Green List (high evidence)
KDSR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia
Tags
Green List (high evidence)
KLF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Tags
Green List (high evidence)
KRT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KRT10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KRT14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000)
  • Dermatopathia pigmentosa reticularis (MIM#125595)
Tags
Green List (high evidence)
KRT16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000)
  • Pachyonychia congenita 1 (MIM#167200)
Tags
Green List (high evidence)
KRT17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 2 (MIM#167210)
Tags
Green List (high evidence)
KRT6A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)
Tags
Green List (high evidence)
KRT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 4 (MIM#615728)
Tags
Green List (high evidence)
KRT6C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Tags
Green List (high evidence)
KRT9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, epidermolytic (MIM#144200)
Tags
Green List (high evidence)
LOR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vohwinkel syndrome with ichthyosis MIM#604117
Tags
  • new gene name
Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Olmsted syndrome, X-linked (MIM#300918)
  • Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800)
  • IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Tags
Green List (high evidence)
NIPAL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
Tags
Green List (high evidence)
NLRP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Palmoplantar carcinoma, multiple self-healing, OMIM # 615225
Tags
Green List (high evidence)
NSDHL
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHILD syndrome (MIM#308050)
Tags
Green List (high evidence)
PERP
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Olmsted syndrome 2, MIM# 619208
  • Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Tags
Green List (high evidence)
PKP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Tags
Green List (high evidence)
PNPLA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Tags
Green List (high evidence)
POMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Tags
Green List (high evidence)
RHBDF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tylosis with oesophageal cancer, MIM# 148500
Tags
Green List (high evidence)
RSPO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644
  • Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Tags
Green List (high evidence)
SDR9C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Tags
Green List (high evidence)
SERPINB7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, Nagashima type (MIM#615598)
Tags
Green List (high evidence)
SLURP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meleda disease (MIM#248300)
Tags
Green List (high evidence)
SMARCAD1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basan syndrome, MIM#129200
  • Huriez syndrome, OMIM #181600
Tags
Green List (high evidence)
SNAP29
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SPINK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Netherton syndrome (MIM#256500)
Tags
Green List (high evidence)
TAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
Tags
  • treatable
Green List (high evidence)
TGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Tags
Green List (high evidence)
TRPV3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Olmsted syndrome, MIM# 614594
Tags
Green List (high evidence)
VPS33B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome
Tags
  • founder
Amber List (moderate evidence)
CCDC91
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Punctate palmoplantar keratoderma type III MONDO:0007047
Tags
Amber List (moderate evidence)
CYP4F22
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5 MIM#604777
Tags
Amber List (moderate evidence)
STS
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, X-linked (MIM#308100)
Tags
Amber List (moderate evidence)
SULT2B1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Tags
Red List (low evidence)
ABHD5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Chanarin-Dorfman syndrome (MIM#275630)
Tags
Red List (low evidence)
COL14A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
Tags
Red List (low evidence)
FAM83G
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Tags
Red List (low evidence)
KANK2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Palmoplantar keratoderma and woolly hair (MIM#616099)
Tags
  • founder
Red List (low evidence)
KRT2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Tags
Red List (low evidence)
KRT83
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
Tags
Red List (low evidence)
SASH1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dyschromatosis universalis hereditaria 1 (MIM#127500)
Tags
Red List (low evidence)
TRPM4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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