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  3. POMP
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: POMP

Green List (high evidence)
POMP (proteasome maturation protein)
EnsemblGeneIds (GRCh38): ENSG00000132963
EnsemblGeneIds (GRCh37): ENSG00000132963
OMIM: 613386, Gene2Phenotype
POMP is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar
keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists.

PMID: 20226437;
Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated)

PMID: 27503413;
1x proband from consanguineous parents

PMID: 29315485;
1x proband

*All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP
c.-95del
Sources: Literature
Created: 19 Aug 2020, 1:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)

Publications

Created: 19 Aug 2020, 1:50 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
OMIM
613386
Clinvar variants
Variants in POMP
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomp has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomp has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: POMP was added gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437; 27503413; 29315485 Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952) Penetrance for gene: POMP were set to unknown Review for gene: POMP was set to GREEN