The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Palmoplantar keratodermas (Version 4.9)

Level 2: Dermatology

Relevant disorders: R166
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (30 Apr 2025)
Previously signed off versions: v3.0, v2.0, v1.3

Description

This panel is used for clinical indication 'R166 Palmoplantar keratodermas' 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 'R166 Palmoplantar keratodermas'.

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.

Panel Activity

11 reviewers

Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
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
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
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

74 Entities

74 reviewed, 59 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 74 Entitiess
Green List (high evidence)	AAGAB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes autosomal recessive congenital ichthyosis Harlequin ichthyosis Tags
Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags
Green List (high evidence)	ADAM17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inflammatory skin and bowel disease, neonatal Tags
Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green List (high evidence)	ALOX12B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	ALOXE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	AP1S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MEDNIK syndrome Tags
Green List (high evidence)	AQP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	ARSE	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Chondrodysplasia punctata Tags new-gene-name
Green List (high evidence)	CAST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads Tags
Green List (high evidence)	CDSN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Green List (high evidence)	CERS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	CSTA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes susceptibility to psoriasis susceptility to atopic dermatitis Exfoliative ichthyosis/acral peeling skin syndrome Tags
Green List (high evidence)	CTSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Papillon-Lefvre syndrome Tags
Green List (high evidence)	CYP4F22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	DSC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosomal disorders Palmoplantar keratoderma, woolly hair Tags
Green List (high evidence)	DSC3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosomal disorders Palmoplantar keratoderma, woolly hair Hypotrichosis and recurrent skin vesicles, OMIM:613102 hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136 Tags
Green List (high evidence)	DSG1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Congenital erythroderma with palmoplantar keratoderma Desmosomal disorders Tags
Green List (high evidence)	DSG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Green List (high evidence)	DSP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Keratosis palmoplantaris striata II, OMIM:612908 (AD) Tags
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 Review Green London North GLH NHS GMS Phenotypes Conradi-Hunnermann-Happle syndrome Tags
Green List (high evidence)	ELOVL4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis, spastic quadriplegia, mental retardation Tags
Green List (high evidence)	ENPP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cole disease Tags
Green List (high evidence)	FLG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis vulgaris, OMIM:146700 Dermatitis, atopic, susceptibility to, 2, OMIM:605803 hereditary palmoplantar keratoderma, MONDO:0019272 Tags Q3_25_MOI
Green List (high evidence)	FLG2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Peeling skin syndrome 6, OMIM: 618084 Tags
Green List (high evidence)	GJA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 Palmoplantar keratoderma with congenital alopecia, OMIM:104100 Oculodentodigital dysplasia, OMIM:164200 Tags
Green List (high evidence)	GJB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix Tags
Green List (high evidence)	JUP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Naxos disease, OMIM:601214 Palmoplantar keratoderma, keratoderma with woolly hair Tags
Green List (high evidence)	KANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma, woolly hair Tags
Green List (high evidence)	KDSR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 4 Tags
Green List (high evidence)	KRT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis histrix Palmoplantar keratoderma Epidermolytic hyperkeratosis Tags
Green List (high evidence)	KRT10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pachyonychia congenita Palmoplantar keratoderma Ichythosis with confetti Epidermolytic hyperkeratosis Tags
Green List (high evidence)	KRT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal dominant ichthyosis Tags
Green List (high evidence)	KRT6C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	KRT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	LIPN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	LOR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Loricrin keratoderma Tags new-gene-name
Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Olmstedt syndrome IFAP syndrome Keratosis follicularis spinulosa decalvans Tags
Green List (high evidence)	NIPAL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
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 Review Green London North GLH NHS GMS Phenotypes CHILD syndrome Tags
Green List (high evidence)	PERP	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Olmsted syndrome-2, MIM# 619208, MONDO:003091 Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941 Ichthyosis, MONDO:0019269 Tags
Green List (high evidence)	PKP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Green List (high evidence)	PNPLA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	POMP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags non-coding-known-pathogenic promoter
Green List (high evidence)	RHBDF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tylosis with esophageal cancer Tags
Green List (high evidence)	RSPO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	SDR9C7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 617574 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 Tags
Green List (high evidence)	SERPINB7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Green List (high evidence)	SERPINB8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Peeling skin syndrome 5, OMIM:617115 Tags
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 London North GLH NHS GMS Phenotypes Meleda disease, OMIM:248300 Tags
Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Tags
Green List (high evidence)	SPINK5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Netherton Syndrome Tags
Green List (high evidence)	STS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes X linked ichthyosis Tags
Green List (high evidence)	SULT2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis, congenital, autosomal recessive 14, OMIM:617571 Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091 Tags
Green List (high evidence)	TGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	TGM5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Peeling skin syndrome 2, OMIM:609796 Tags
Green List (high evidence)	TRPV3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Olmstedt syndrome Tags
Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis syndrome Tags
Amber List (moderate evidence)	AP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green
Amber List (moderate evidence)	FAM83G	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Palmoplantar keratoderma Tags
Amber List (moderate evidence)	NECTIN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565 Tags Q4_25_promote_green
Red List (low evidence)	CASP14	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Ichthyosis, congenital, autosomal recessive 12 617320 Tags
Red List (low evidence)	CLDN1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Neonatal ichthyosis-sclerosing cholangitis syndrome Tags
Red List (low evidence)	DSC1	1 review 1 red	Not set	Sources Expert Review Red London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Red List (low evidence)	DSG2	1 review 1 red	Not set	Sources Expert Review Red London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Red List (low evidence)	MVK	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Porokeratosis 3, multiple types, OMIM:175900 Tags
Red List (low evidence)	PEX7	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Refsum disease Tags
Red List (low evidence)	PHYH	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Refsum disease, OMIM:266500 Tags
Red List (low evidence)	PKP2	1 review 1 red	Not set	Sources Expert Review Red London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Red List (low evidence)	SASH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 Tags
Red List (low evidence)	SLC27A4	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Ichthyosis prematurity syndrome, OMIM:608649 Tags
Red List (low evidence)	ST14	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Autosomal recessive congenital ichthyosis Tags
Red List (low evidence)	STK11	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags

Major version comments

2025-04-30 16:52 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
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 (4.0) following this.

2023-03-22 16:49 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 14:47 Achchuthan Shanmugasundram (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 17:46 Catherine Snow (Genomics England) promoted panel to 1.0
The content of this panel (0.1) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (1) as a result of this.

Palmoplantar keratodermas (Version 4.9)

11 reviewers

74 Entities

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