List of diseases covered by Ichthyosis NGS panel

Gene Condition
ABCA12 Ichthyosis, congenital, autosomal recessive 4A;
Ichthyosis, congenital, autosomal recessive 4B (harlequin)
ABHD5 Chanarin-Dorfman syndrome
ALDH3A2 Sjogren-Larsson syndrome
ALOX12B Ichthyosis, congenital, autosomal recessive 2
ALOXE3 Ichthyosis, congenital, autosomal recessive 3
AP1S1 MEDNIK syndrome
CDSN Hypotrichosis 2; Peeling skin syndrome 1
CERS3 Ichthyosis, congenital, autosomal recessive 9
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia,
and sclerosing cholangitis
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
EBP Chondrodysplasia punctata, X-linked dominant
ERCC2 Xeroderma pigmentosum, group D;
Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2
ERCC3 Xeroderma pigmentosum, group B;
Trichothiodystrophy 2, photosensitive
FLG Ichthyosis vulgaris;
Dermatitis, atopic, susceptibility to, 2
GJB2 Bart-Pumphrey syndrome;
Deafness, autosomal dominant 3A; Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
GJB3 Erythrokeratodermia variabilis et progressiva 1;
Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3
GJB4 Erythrokeratodermia variabilis et progressiva 2
GTF2H5 Trichothiodystrophy 3, photosensitive
KRT1 Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III; Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic
KRT2 Ichthyosis bullosa of Siemens
KRT9 Palmoplantar keratoderma, epidermolytic
KRT10 Epidermolytic hyperkeratosis;
Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis
LIPN Ichthyosis, congenital, autosomal recessive 8
LOR Vohwinkel syndrome with ichthyosis
MPLKIP Trichothiodystrophy 4, nonphotosensitive
NIPAL4 Ichthyosis, congenital, autosomal recessive 6
PEX7 Peroxisome biogenesis disorder 9B;
Rhizomelic chondrodysplasia punctata, type 1
PHYH Refsum disease
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
POMP Keratosis linearis with
ichthyosis congenita and sclerosing keratoderma;
Proteasome-associated autoinflammatory syndrome 2
SLC27A4 Ichthyosis prematurity syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
SPINK5 Netherton syndrome
ST14 Ichthyosis, congenital, autosomal recessive 11
STS Ichthyosis, X-linked
SUMF1 Multiple sulfatase deficiency
TGM1 Ichthyosis, congenital, autosomal recessive 1
TGM5 Peeling skin syndrome 2