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 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/555/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (19/02/2020).

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 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).

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)

11 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

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

68 Entities

67 reviewed, 51 green

List Entity Reviews Mode of inheritance Details
68 Entitiess
Green Green List (high evidence)
AAGAB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA, 148600
  • PPKP Buschke-Fischer-Brauer type
  • Punctate keratoderma and congenital dysplasia of the hip
  • Punctate keratoderma
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), 242500
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
Tags
Green Green List (high evidence)
ALOX12B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nonbullous congenital ichthyosiform erythroderma (NBCIE)
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Tags
Green Green List (high evidence)
ALOXE3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Most patients present with collodion membrane at birth and have palmoplantar keratoderma
  • Ichthyosis, congenital, autosomal recessive 3, 606545
  • Nonbullous congenital ichthyosiform erythroderma (NBCIE)
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, 600231
Tags
Green Green List (high evidence)
CARD14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • familial pityriasis rubra pilaris
  • Pityriasis rubra pilaris, 173200
  • keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
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 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, 615023
Tags
Green Green List (high evidence)
CLDN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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, 604777
Tags
Green Green List (high evidence)
DSC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, 610476
  • Striate keratoderma with woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 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, 615508
  • Keratosis palmoplantaris striata I, AD, 148700
Tags
Green Green List (high evidence)
DSP
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
  • Skin fragility-woolly hair syndrome
  • Keratosis palmoplantaris striata II, 612908
  • lethal acantholytic epidermolysis bullosa, 609638
  • Striate keratoderma with woolly hair and cardiomyopathy
  • Skin fragility-woolly hair syndrome, 607655
  • oligodontia or hypodontia
  • alopecia, follicular hyperkeratoses and keratoderma
  • diffuse keratoderma
  • Epidermolysis bullosa, lethal acantholytic
  • striate keratoderma
  • CARVAJAL SYNDROME
  • Arrhythmogenic right ventricular dysplasia 8, 607450
  • Keratosis palmoplantaris striata II
  • Dilated cardiomyopathy with woolly hair and keratoderma, 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, 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
Tags
Green Green List (high evidence)
FLG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GJA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • keratoderma, hypotrichosis and leukonychia
  • Palmoplantar keratoderma with congenital alopecia, 104100
  • Erythrokeratoderma
  • Erythrokeratodermia variabilis et progressiva 3, 617525
  • Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
GJB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • Keratoderma, palmoplantar, with deafness, 148350
  • Deafness, autosomal recessive 1A, 220290
  • Deafness, autosomal dominant 3A, 601544
  • Keratitis-ichthyosis-deafness syndrome, 148210
  • Vohwinkel syndrome, 124500
  • Keratoderma with deafness
  • Bart-Pumphrey syndrome, 149200
Tags
Green Green List (high evidence)
GJB3
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratoderma
  • deafness
  • Erythrokeratodermia variabilis et progressiva, 133200
  • peripheral neuropathy
  • Erythrokeratodermia Variabilis
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, 617524
Tags
Green Green List (high evidence)
GJB6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • palmoplantar hyperkeratosis
  • ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES
  • PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
  • palmoplantar keratoderma (PPK), keratoderma with woolly hair
  • Naxos disease, 601214
  • KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Tags
Green Green List (high evidence)
KDSR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526
Tags
Green Green List (high evidence)
KRT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, 600962
  • Palmoplantar keratoderma, epidermolytic, 1
  • Ichthyosis histrix, Curth-Macklin type, 146590
  • Epidermolytic hyperkeratosis, 113800
  • Diffuse palmoplantar keratoderma
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
  • triate keratoderma
Tags
Green Green List (high evidence)
KRT10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis (EHK), 113800
  • erythroderma, prominent scale, and palmoplantar keratoderma
  • ichthyosis with confetti, 609165
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Naegeli-Franceschetti-Jadassohn syndrome, 161000
  • palmoplantar keratoderma
  • Dermatopathia pigmentosa reticularis, 125595
  • Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Tags
Green Green List (high evidence)
KRT16
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • focal non-epidermolytic palmoplantar keratoderma (NEPPK)
  • striate keratoderma (palmar)
  • Palmoplantar keratoderma, nonepidermolytic, focal, 613000
  • Pachyonychia Congenita, Type 1
  • focal keratoderma (palmar)
  • Focal keratoderma
  • FNEPPK1
  • Pachyonychia congenita (PC)
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, 184500
  • Pachyonychia congenita, Jackson-Lawler type, 167210
  • Pachyonychia Congenita, Type 2
Tags
Green Green List (high evidence)
KRT6A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • Pachyonychia congenital
  • Pachyonychia Congenita, Type 1
Tags
Green Green List (high evidence)
KRT6B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • pachyonychia congenita type 2 (PC-2)
  • Pachyonychia congenita 4, 615728
  • PC4
Tags
Green Green List (high evidence)
KRT6C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Focal keratoderma
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735
  • dystrophic nails
Tags
Green Green List (high evidence)
KRT9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar Keratoderma, Epidermolytic
  • Diffuse keratoderma with knuckle pads
  • Diffuse keratoderma with digital mutilation
  • V rner type palmoplantar keratoderma
  • Diffuse keratoderma
  • Palmoplantar keratoderma, epidermolytic, 144200
  • Epidermolytic Palmoplantar Keratoderma (EPPK)
Tags
Green Green List (high evidence)
LOR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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, 612281
Tags
Green Green List (high evidence)
PIGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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, 615024
Tags
Green Green List (high evidence)
RHBDF2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Howel-Evans syndrome
  • tylosis with oesophageal cancer
  • PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
  • oral leukokeratosis
  • Focal keratoderma
  • Hyperkeratosis, diffuse palmoplantar (tylosis)
  • tylosis with esophageal cancer, 148500
  • KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Tags
Green Green List (high evidence)
RSPO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • palmoplantar keratoderma
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644
  • Palmoplantar hyperkeratosis and true hermaphroditism, 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 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, 615598
Tags
Green Green List (high evidence)
SLC27A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, 608649
Tags
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
Phenotypes
  • keratosis palmoplantaris transgrediens
  • Diffuse palmoplantar keratoderma
  • palmoplantar keratoderma
  • Mal de Meleda (MDM)
  • Meleda disease, 248300
Tags
Green Green List (high evidence)
SNAP29
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CEDNIK syndrome
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Tags
Green Green List (high evidence)
SPINK5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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, 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, 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 617571
Tags
Green Green List (high evidence)
TAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • palmoplantar hyperkeratosis
  • KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY
  • Tyrosinemia, type II, 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, 242300
Tags
Green Green List (high evidence)
TRPV3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques
  • ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400
  • Olmsted syndrome, 614594
Tags
Amber Amber List (moderate evidence)
KRT2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MSMO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SMARCAD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Basan syndrome, 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
ASPRV1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • palmoplantar keratoderma
  • lamellar ichthyosis
Tags
No list No list
PERP
1 review
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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