Ichthyosis and erythrokeratoderma (Version 3.28)

The latest signed off version for the GMS is v3.2. The current version, shown here, may differ from the signed-off version.

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'.

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.

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)

Panel Activity

17 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John McGrath (King's College London)

Group: GeCIP domain
Workplace: Research lab
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic 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
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
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
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

78 Entities

78 reviewed, 55 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 78 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)	ALDH3A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Sjogren-Larsson syndrome, OMIM:270200 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)	ASPRV1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyosis, lamellar, autosomal dominant, OMIM:146750 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	3 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)	ELOVL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 Tags missense
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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 Palmoplantar keratoderma with congenital alopecia, OMIM:104100 Tags
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)	GTF2E2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Tags
Green Green List (high evidence)	Xp22.31 recurrent region (includes STS) Loss ISCA-37417-Loss Region	1 review	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	2 reviews	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	7 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
Amber Amber List (moderate evidence)	ABHD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	CDSN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peeling skin syndrome 1, OMIM:270300 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	CSTA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peeling skin syndrome 4, OMIM:607936 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	DBR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ichthyosis, MONDO:0019269 Tags founder-effect
Amber Amber List (moderate evidence)	FAM83G	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Palmoplantar keratoderma with leukonychia and abundant curly hair Tags
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)	PERP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature 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)	SMARCAD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Basan syndrome, OMIM:129200 palmoplantar keratoderma Tags watchlist
Amber Amber List (moderate evidence)	SREBF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221 Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017 Tags Q4_22_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)	ALDH1L2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks Tags
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)	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	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags non-coding-known-pathogenic promoter Q1_24_expert_review Q1_24_promote_green
Red Red List (low evidence)	SASH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 Tags

Major version comments

2023-03-22 16:45 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:22 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 16:56 Catherine Snow (Genomics England) promoted panel to 1.0
The content of this panel (version 0.18) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1) as a result of this.

Ichthyosis and erythrokeratoderma (Version 3.28)

17 reviewers

78 Entities

78 reviewed, 55 green

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