Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R166 Palmoplantar keratodermas' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R166 Palmoplantar keratodermas'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s)

3 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

69 Entities

68 reviewed, 62 green

List Entity Reviews Mode of inheritance Details
69 Entitiess
Green Green List (high evidence)
AAGAB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
ABCA12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • autosomal recessive congenital ichthyosis
  • Harlequin ichthyosis
Tags
Green Green List (high evidence)
ABHD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neutral lipid storage disease
Tags
Green Green List (high evidence)
ADAM17
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Inflammatory skin and bowel disease, neonatal
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Sjogren-Larsson syndrome
Tags
Green Green List (high evidence)
ALOX12B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
ALOXE3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
AP1S1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MEDNIK syndrome
Tags
Green Green List (high evidence)
AQP5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
ARSE
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chondrodysplasia punctata
Tags
  • new-gene-name
Green Green List (high evidence)
CASP14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12
  • 617320
Tags
Green Green List (high evidence)
CAST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Tags
Green Green List (high evidence)
CDSN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
CERS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
CLDN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neonatal ichthyosis-sclerosing cholangitis syndrome
Tags
Green Green List (high evidence)
CSTA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • susceptibility to psoriasis
  • susceptility to atopic dermatitis
  • Exfoliative ichthyosis/acral peeling skin syndrome
Tags
Green Green List (high evidence)
CTSC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Papillon-Lefvre syndrome
Tags
Green Green List (high evidence)
CYP4F22
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
DSC2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
Tags
Green Green List (high evidence)
DSC3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
Tags
Green Green List (high evidence)
DSG1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
  • Congenital erythroderma with palmoplantar keratoderma
  • Desmosomal disorders
Tags
Green Green List (high evidence)
DSG4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
DSP
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
EBP
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Conradi-Hunnermann-Happle syndrome
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis, spastic quadriplegia, mental retardation
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cole disease
Tags
Green Green List (high evidence)
FLG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ICHTHYOSIS VULGARIS
Tags
Green Green List (high evidence)
GJA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
GJB2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
Tags
Green Green List (high evidence)
JUP
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Naxos disease
  • Desmosomal disorders
Tags
Green Green List (high evidence)
KANK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma, woolly hair
Tags
Green Green List (high evidence)
KDSR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4
Tags
Green Green List (high evidence)
KRT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis histrix
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Green Green List (high evidence)
KRT10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Ichythosis with confetti
  • Epidermolytic hyperkeratosis
Tags
Green Green List (high evidence)
KRT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal dominant ichthyosis
Tags
Green Green List (high evidence)
KRT6C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
KRT9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
LIPN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
LOR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Loricrin keratoderma
Tags
Green Green List (high evidence)
MBTPS2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmstedt syndrome
  • IFAP syndrome
  • Keratosis follicularis spinulosa decalvans
Tags
Green Green List (high evidence)
MVK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • porokeratosis of Mibelli
  • Actinic porokeratosis
Tags
Green Green List (high evidence)
NIPAL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
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
  • London North GLH
  • NHS GMS
Phenotypes
  • CHILD syndrome
Tags
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Refsum disease
Tags
Green Green List (high evidence)
PHYH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Refsum disease
Tags
Green Green List (high evidence)
PKP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
PNPLA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
POMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Tags
Green Green List (high evidence)
RHBDF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Tylosis with esophageal cancer
Tags
Green Green List (high evidence)
RSPO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
SDR9C7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • 617574
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
Tags
Green Green List (high evidence)
SERPINB7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
SLC27A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis prematurity syndrome
Tags
Green Green List (high evidence)
SLURP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mal de Meleda
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Tags
Green Green List (high evidence)
SPINK5
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Netherton Syndrome
Tags
Green Green List (high evidence)
ST14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
STS
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • X linked ichthyosis
Tags
Green Green List (high evidence)
SULT2B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14
  • 617571
Tags
Green Green List (high evidence)
TGM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
TRPV3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmstedt syndrome
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis syndrome
Tags
Amber Amber List (moderate evidence)
STK11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Red Red List (low evidence)
DSC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
DSG2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
FAM83G
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Red Red List (low evidence)
PERP
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Dominant and Recessive Keratoderma
Tags
Red Red List (low evidence)
PKP2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
SASH1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyschromatosis (het)
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Tags

Downloads

Download lists

Download Version