PanelApp (staging)
  1. Panels
  2. Ichthyosis
Description
This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis.
Panel Activity

11 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

57 Entities

57 reviewed, 44 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
ABCA12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)
  • Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Tags
Green Green List (high evidence)
ABHD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chanarin-Dorfman syndrome MIM#275630
  • neutral lipid storage disease with ichthyosis
  • non-bullous congenital ichthyosiform erithroderma
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sjogren-Larsson syndrome MIM#270200
  • spasticity
  • ichthyosis
  • intellectual disability
Tags
Green Green List (high evidence)
ALOX12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Tags
Green Green List (high evidence)
ALOXE3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Tags
Green Green List (high evidence)
AP1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • enteropathy
  • deafness
  • ichthyosis
  • keratoderma
Tags
Green Green List (high evidence)
AP1S1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome (MIM#609313)
Tags
Green Green List (high evidence)
ASPRV1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis
Tags
Green Green List (high evidence)
CDSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 1 MIM#270300
  • ichthyosiform erythroderma
Tags
Green Green List (high evidence)
CERS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Tags
Green Green List (high evidence)
CLDN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Tags
Green Green List (high evidence)
CLDN10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HELIX syndrome MIM#617671
  • hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Tags
Green Green List (high evidence)
CSTA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4 MIM#607936
  • exfoliative ichthyosis
Tags
Green Green List (high evidence)
CYP4F22
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
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 list
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant MIM#302960
  • Conradi-Hunermann syndrome
Tags
Green Green List (high evidence)
ELOVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Trichothiodystrophy 1, photosensitive MIM#601675
  • photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
Tags
Green Green List (high evidence)
FLG
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis vulgaris 146700
  • {Dermatitis, atopic, susceptibility to, 2} 605803
Tags
Green Green List (high evidence)
FLG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 6, MIM# 618084
Tags
Green Green List (high evidence)
GJB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hystrix-like ichthyosis with deafness MIM#602540
  • Keratitis-ichthyosis-deafness syndrome MIM#148210
Tags
Green Green List (high evidence)
KLK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis with erythrokeratoderma, MIM# 620507
Tags
Green Green List (high evidence)
KRT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602
  • Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Tags
Green Green List (high evidence)
KRT10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602
  • Ichthyosis with confetti, MIM# 609165
Tags
Green Green List (high evidence)
KRT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) , MIM#146800
Tags
Green Green List (high evidence)
LOR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vohwinkel syndrome with ichthyosis, MIM# 604117
Tags
Green Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome MIM#308205
  • follicular ichthyosis
  • atrichia of the scalp
  • photophobia
Tags
Green Green List (high evidence)
NIPAL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
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 list
  • Expert Review Green
Phenotypes
  • CHILD syndrome MIM#308050
  • Congenital hemidysplasia with ichthyosiform nevus and limb defects
Tags
Green Green List (high evidence)
PIGL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
Tags
  • founder
  • SV/CNV
Green Green List (high evidence)
PNPLA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Tags
Green Green List (high evidence)
POMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952
Tags
  • 5'UTR
Green Green List (high evidence)
SDR9C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Tags
Green Green List (high evidence)
SERPINB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 5 MIM#617115
Tags
Green Green List (high evidence)
SLC27A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome MIM#608649
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
Green Green List (high evidence)
SPINK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Netherton syndrome MIM#256500
Tags
Green Green List (high evidence)
SREBF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
  • Mucoepithelial dysplasia, hereditary, MIM#158310
Tags
Green Green List (high evidence)
ST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11 MIM#602400
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, X-linked, MIM# 308100
Tags
  • SV/CNV
Green Green List (high evidence)
SULT2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple sulfatase deficiency MIM#272200
  • neurologic deterioration with mental retardation
  • skeletal anomalies
  • organomegaly
  • ichthyosis
Tags
Green Green List (high evidence)
TGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autosomal recessive keratoderma-ichthyosis-deafness
Tags
Amber Amber List (moderate evidence)
CASP14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Tags
Amber Amber List (moderate evidence)
DBR1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Tags
  • founder
Amber Amber List (moderate evidence)
GTF2H5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 3, photosensitive MIM#616395
Tags
Amber Amber List (moderate evidence)
KDSR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Harlequin ichthyosis
Tags
Amber Amber List (moderate evidence)
MSMO1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
  • MONDO:0014793
Tags
Amber Amber List (moderate evidence)
PRSS8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ichthyosis MONDO:0019269, PRSS8-related
Tags
Amber Amber List (moderate evidence)
SREBF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
Tags
Red Red List (low evidence)
ERCC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Trichothiodystrophy 2, photosensitive MIM#616390
Tags
Red Red List (low evidence)
GJB3
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1 MIM#133200
Tags
Red Red List (low evidence)
GJB4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2 MIM#617524
Tags
Red Red List (low evidence)
LIPN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Tags
Red Red List (low evidence)
PEX7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 9B MIM#614879
Tags
Red Red List (low evidence)
PHYH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Refsum disease MIM#266500
Tags

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