PanelApp (test)
  1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
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

12 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

73 Entities

65 reviewed, 61 green

List Entity Reviews Mode of inheritance Details
73 Entitiess
Green Green List (high evidence)
AAGAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Keratoderma, palmoplantar, punctate type IA (MIM#148600)
Tags
Green Green List (high evidence)
ALOX12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Tags
Green Green List (high evidence)
ALOXE3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AP1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440
Tags
Green Green List (high evidence)
AP1S1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • MEDNIK syndrome (MIM#609313)
Tags
Green Green List (high evidence)
AQP5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ASPRV1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis
Tags
Green Green List (high evidence)
CARD14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pityriasis rubra pilaris (MIM#173200)
Tags
Green Green List (high evidence)
CAST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Tags
Green Green List (high evidence)
CDSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Peeling skin syndrome 1 MIM#270300
Tags
Green Green List (high evidence)
CERS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
Tags
Green Green List (high evidence)
CSTA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Peeling skin syndrome 4 #607936
Tags
Green Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Papillon-Lefevre syndrome (MIM#245000)
Tags
Green Green List (high evidence)
DSC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DSG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DSP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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
Disease associations
  • Chondrodysplasia punctata, X-linked dominant 302960
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Spinocerebellar ataxia 34, MIM#133190
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cole disease (MIM#615522)
Tags
Green Green List (high evidence)
FAM111B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Tags
Green Green List (high evidence)
FAM83G
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100)
  • Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Tags
Green Green List (high evidence)
GJB2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • 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 Green List (high evidence)
GJB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
Tags
Green Green List (high evidence)
GJB4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GJB6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Tags
Green Green List (high evidence)
JUP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Naxos disease (MIM#601214)
Tags
Green Green List (high evidence)
KDSR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia
Tags
Green Green List (high evidence)
KLF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Tags
Green Green List (high evidence)
KRT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KRT10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KRT14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000)
  • Dermatopathia pigmentosa reticularis (MIM#125595)
Tags
Green Green List (high evidence)
KRT16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000)
  • Pachyonychia congenita 1 (MIM#167200)
Tags
Green Green List (high evidence)
KRT17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pachyonychia congenita 2 (MIM#167210)
Tags
Green Green List (high evidence)
KRT32
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Pityriasis rubra pilaris MONDO:0100017
Tags
Green Green List (high evidence)
KRT6A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pachyonychia congenita 3 (MIM#615726)
Tags
Green Green List (high evidence)
KRT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pachyonychia congenita 4 (MIM#615728)
Tags
Green Green List (high evidence)
KRT6C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Tags
Green Green List (high evidence)
KRT9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar keratoderma, epidermolytic (MIM#144200)
Tags
Green Green List (high evidence)
LORICRIN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Vohwinkel syndrome with ichthyosis MIM#604117
Tags
  • new gene name
Green Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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 Green List (high evidence)
NIPAL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
Tags
Green Green List (high evidence)
NLRP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Palmoplantar carcinoma, multiple self-healing, OMIM # 615225
Tags
Green 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
Disease associations
  • CHILD syndrome (MIM#308050)
Tags
Green Green List (high evidence)
PERP
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Olmsted syndrome 2, MIM# 619208
  • Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Tags
Green Green List (high evidence)
PKP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Tags
Green Green List (high evidence)
PNPLA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Tags
Green Green List (high evidence)
POMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Tags
Green Green List (high evidence)
RHBDF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Tylosis with oesophageal cancer, MIM# 148500
Tags
Green Green List (high evidence)
RSPO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644
  • Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Tags
Green Green List (high evidence)
SDR9C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Tags
Green Green List (high evidence)
SERPINB7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Palmoplantar keratoderma, Nagashima type (MIM#615598)
Tags
Green Green List (high evidence)
SLURP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Meleda disease (MIM#248300)
Tags
Green Green List (high evidence)
SMARCAD1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Basan syndrome, MIM#129200
  • Huriez syndrome, OMIM #181600
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SPINK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Netherton syndrome (MIM#256500)
Tags
Green Green List (high evidence)
TAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Tyrosinemia, type II (MIM#276600)
Tags
  • treatable
Green Green List (high evidence)
TGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Tags
Green Green List (high evidence)
TRPV3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Olmsted syndrome, MIM# 614594
Tags
Green Green List (high evidence)
TUFT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Woolly hair-skin fragility syndrome, MIM# 620415
Tags
Green Green List (high evidence)
VPS33B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome
Tags
  • founder
Amber Amber List (moderate evidence)
CCDC91
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Punctate palmoplantar keratoderma type III MONDO:0007047
Tags
Amber Amber List (moderate evidence)
CYP4F22
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 5 MIM#604777
Tags
Amber Amber List (moderate evidence)
STS
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Ichthyosis, X-linked (MIM#308100)
Tags
Amber Amber List (moderate evidence)
SULT2B1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Tags
Amber Amber List (moderate evidence)
TRPM4
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Disease associations
  • Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Tags
Red Red List (low evidence)
ABHD5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Chanarin-Dorfman syndrome (MIM#275630)
Tags
Red Red List (low evidence)
COL14A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
Tags
Red Red List (low evidence)
DUSP1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related
Tags
Red Red List (low evidence)
KANK2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Palmoplantar keratoderma and woolly hair (MIM#616099)
Tags
  • founder
Red Red List (low evidence)
KRT2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Tags
Red Red List (low evidence)
KRT83
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Disease associations
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
Tags
Red Red List (low evidence)
SASH1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Dyschromatosis universalis hereditaria 1 (MIM#127500)
Tags

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