Palmoplantar keratodermas (Version 3.25)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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

10 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

72 Entities

72 reviewed, 61 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 72 Entitiess
Green 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	CASP14	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis, congenital, autosomal recessive 12 617320 Tags Q1_24_demote_red Q1_24_expert_review
Green 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 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 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 Green List (high evidence)	CLDN1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neonatal ichthyosis-sclerosing cholangitis syndrome Tags Q1_24_demote_red Q1_24_expert_review
Green 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	FLG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes ICHTHYOSIS VULGARIS Tags
Green 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 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 Green List (high evidence)	JUP	2 reviews 1 green	BOTH monoallelic and 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 Q4_22_MOI
Green 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	MVK	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porokeratosis 3, multiple types, OMIM:175900 Tags Q1_24_demote_red Q1_24_expert_review
Green 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 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 Green List (high evidence)	PEX7	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Refsum disease Tags Q1_24_demote_red
Green Green List (high evidence)	PHYH	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Refsum disease, OMIM:266500 Tags Q1_24_demote_red Q1_24_expert_review
Green 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 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 Green List (high evidence)	POMP	2 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 Q1_24_demote_red Q1_24_expert_review
Green 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 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 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 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 Green List (high evidence)	SLC27A4	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ichthyosis prematurity syndrome, OMIM:608649 Tags Q1_24_demote_red Q1_24_expert_review
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 London North GLH NHS GMS Phenotypes Meleda disease, OMIM:248300 Tags
Green 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	FLG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peeling skin syndrome 6, OMIM: 618084 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	PERP	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber 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 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)	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)	DSC1	1 review 1 red	Not set	Sources Expert Review Red London North GLH NHS GMS Phenotypes Desmosomal disorders Tags
Red 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 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 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 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 Red List (low evidence)	STK11	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags

Major version comments

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 3.25)

10 reviewers

72 Entities

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