Description
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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

10 reviewers

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

72 Entities

72 reviewed, 61 green

List Entity Reviews Mode of inheritance Details
72 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, OMIM:270200
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
3 reviews
1 green 1 red
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
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12
  • 617320
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
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
2 reviews
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
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neonatal ichthyosis-sclerosing cholangitis syndrome
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
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
3 reviews
1 green
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
  • Hypotrichosis and recurrent skin vesicles, OMIM:613102
  • hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136
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
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
  • Keratosis palmoplantaris striata II, OMIM:612908 (AD)
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
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
  • Oculodentodigital dysplasia, OMIM:164200
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
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Naxos disease, OMIM:601214
  • Palmoplantar keratoderma, keratoderma with woolly hair
Tags
  • Q4_22_MOI
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
2 reviews
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Loricrin keratoderma
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmstedt syndrome
  • IFAP syndrome
  • Keratosis follicularis spinulosa decalvans
Tags
Green Green List (high evidence)
MVK
3 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Porokeratosis 3, multiple types, OMIM:175900
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
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
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Refsum disease
Tags
  • Q1_24_demote_red
Green Green List (high evidence)
PHYH
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Refsum disease, OMIM:266500
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
  • non-coding-known-pathogenic
  • promoter
  • Q1_24_demote_red
  • Q1_24_expert_review
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
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
SLURP1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Meleda disease, OMIM:248300
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Netherton Syndrome
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, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
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)
FAM83G
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Amber Amber List (moderate evidence)
FLG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peeling skin syndrome 6, OMIM: 618084
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PERP
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
SERPINB8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TGM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
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)
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Tags
Red Red List (low evidence)
ST14
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Red Red List (low evidence)
STK11
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags

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