Description
This panel is used for clinical indication 'R165 Ichthyosis and erythrokeratoderma' 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 'R165 Ichthyosis and erythrokeratoderma'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/555/?version=1.3) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

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 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.

This panel was originally created using genes and their ratings from the following panels:
- Palmoplantar keratoderma and erythrokeratodermas (v1.15, code 215) 
- Autosomal recessive congenital ichthyosis (v1.7, code 282)

14 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • Edel O'Toole (Queen Mary University of London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Veronica Kinsler (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Helen Brittain (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

  • Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

70 Entities

69 reviewed, 51 green

List Entity Reviews Mode of inheritance Details
70 Entitiess
Green Green List (high evidence)
AAGAB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA, OMIM:148600
  • PPKP Buschke-Fischer-Brauer type
  • Punctate keratoderma and congenital dysplasia of the hip
Tags
Green Green List (high evidence)
ABCA12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500
  • Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Tags
Green Green List (high evidence)
ALOX12B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Tags
Green Green List (high evidence)
ALOXE3
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
  • congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Tags
Green Green List (high evidence)
AQP5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, Bothnian type, OMIM:600231
Tags
Green Green List (high evidence)
CARD14
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
Tags
Green Green List (high evidence)
CAST
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Tags
Green Green List (high evidence)
CERS3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Tags
Green Green List (high evidence)
CLDN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Tags
Green Green List (high evidence)
CYP4F22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Tags
Green Green List (high evidence)
DSC2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Tags
Green Green List (high evidence)
DSG1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Tags
Green Green List (high evidence)
DSP
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Keratosis palmoplantaris striata II, OMIM:612908
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638
  • Skin fragility-woolly hair syndrome, OMIM:607655
  • Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Tags
Green Green List (high evidence)
ENPP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Tags
Green Green List (high evidence)
FLG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis vulgaris, OMIM:146700
Tags
Green Green List (high evidence)
FLG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM: 618084
Tags
Green Green List (high evidence)
GJA1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Tags
  • Q3_21_MOI
Green Green List (high evidence)
GJB2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hystrix-like ichthyosis with deafness, OMIM:602540
  • Keratoderma, palmoplantar, with deafness, OMIM:148350
  • Keratitis-ichthyosis-deafness syndrome, OMIM:148210
  • Vohwinkel syndrome, OMIM:24500
  • Bart-Pumphrey syndrome, OMIM:149200
Tags
Green Green List (high evidence)
GJB3
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva, OMIM:133200
Tags
Green Green List (high evidence)
GJB4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Tags
Green Green List (high evidence)
GJB6
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, OMIM:129500
Tags
Green Green List (high evidence)
Xp22.31 recurrent region (includes STS) Loss
ISCA-37417-Loss
Region
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • 308100
  • Ichthyosis, X-linked
Tags
Green Green List (high evidence)
JUP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
Tags
Green Green List (high evidence)
KDSR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Tags
Green Green List (high evidence)
KRT1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, OMIM:600962
  • Palmoplantar keratoderma, epidermolytic, OMIM:
  • 600962
  • Ichthyosis histrix, Curth-Macklin type, OMIM:146590
  • Epidermolytic hyperkeratosis, OMIM:113800
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Tags
Green Green List (high evidence)
KRT10
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis (EHK), OMIM:113800
  • ichthyosis with confetti, OMIM:609165
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Tags
Green Green List (high evidence)
KRT14
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000
  • Dermatopathia pigmentosa reticularis, OMIM:125595
Tags
Green Green List (high evidence)
KRT16
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 1, OMIM:167200
  • Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Tags
Green Green List (high evidence)
KRT17
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Steatocystoma multiplex, OMIM:184500
  • Pachyonychia congenita 2, OMIM:167210
Tags
Green Green List (high evidence)
KRT6A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 3, OMIM:615726
Tags
Green Green List (high evidence)
KRT6B
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 4, OMIM:615728
Tags
Green Green List (high evidence)
KRT6C
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Tags
Green Green List (high evidence)
KRT9
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Diffuse keratoderma
  • Palmoplantar keratoderma, epidermolytic, OMIM:144200
Tags
Green Green List (high evidence)
LOR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Vohwinkel syndrome with ichthyosis, OMIM:604117
Tags
  • new-gene-name
Green Green List (high evidence)
NIPAL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Tags
Green Green List (high evidence)
PIGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CHIME syndrome, OMIM:280000
Tags
Green Green List (high evidence)
PNPLA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Tags
Green Green List (high evidence)
RHBDF2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Tylosis with esophageal cancer, OMIM:148500
Tags
Green Green List (high evidence)
RSPO1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644
  • Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Tags
Green Green List (high evidence)
SDR9C7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Tags
Green Green List (high evidence)
SERPINB7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • palmoplantar keratoderma, recurrent tinea
  • Palmoplantar keratoderma, Nagashima type, OMIM:615598
Tags
Green Green List (high evidence)
SLC27A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Tags
Green Green List (high evidence)
SLURP1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meleda disease, OMIM:248300
Tags
Green Green List (high evidence)
SNAP29
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Tags
Green Green List (high evidence)
SPINK5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Netherton syndrome, OMIM: 256500
Tags
Green Green List (high evidence)
ST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Tags
Green Green List (high evidence)
STS
3 reviews
1 red
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
Phenotypes
  • Ichthyosis, X-linked, OMIM:308100
Tags
Green Green List (high evidence)
SULT2B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Tags
Green Green List (high evidence)
TAT
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II, OMIM:276600
Tags
Green Green List (high evidence)
TGM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Tags
Green Green List (high evidence)
TRPV3
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400
  • Olmsted syndrome, OMIM:614594
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
ALDH3A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
  • Q3_21_rating
Amber Amber List (moderate evidence)
ASPRV1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, OMIM:146750
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
KRT2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ichthyosis bullosa of Siemens, OMIM:146800
Tags
Amber Amber List (moderate evidence)
MSMO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Tags
Amber Amber List (moderate evidence)
SMARCAD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Basan syndrome, OMIM:129200
  • palmoplantar keratoderma
Tags
  • watchlist
Red Red List (low evidence)
DES
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Striate keratoderma with woolly hair
  • Cardiomyopathy, dilated, 1I
Tags
Red Red List (low evidence)
DSG2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB
  • Striate keratoderma with woolly hair
Tags
Red Red List (low evidence)
ELOVL4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 34 133190
Tags
Red Red List (low evidence)
FAM83G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Palmoplantar keratoderma with leukonychia and abundant curly hair
Tags
Red Red List (low evidence)
KANK2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PPKWH
  • Palmoplantar keratoderma and woolly hair, 616099
Tags
Red Red List (low evidence)
LIPH
2 reviews
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • Woolly hair/hypotrichosis syndrome
Tags
Red Red List (low evidence)
LIPN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, 613943
Tags
Red Red List (low evidence)
MBTPS2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
  • ?Olmsted syndrome, X-linked, 300918
  • IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Tags
Red Red List (low evidence)
MT-TS1
2 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Keratoderma, Palmoplantar, with deafness
  • palmoplantar keratoderma with deafness
Tags
Red Red List (low evidence)
POMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
Tags
  • promoter
Red Red List (low evidence)
SASH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pigmentation defects, palmoplantar keratoderma and skin carcinoma
Tags
No list No list
ALDH1L2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Tags
No list No list
PERP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Erythrokeratoderma, no OMIM # yet
Tags
No list No list
SREBF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome
Tags

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