Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: POMP

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent 5'UTR variant is captured using the current VCGS exome design.
Created: 23 Jan 2025, 7:45 a.m. | Last Modified: 23 Jan 2025, 7:45 a.m.
Panel Version: 1.1314

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

From OMIM:
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) is an autosomal recessive disorder of keratinization characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers, and keratotic papules in a linear distribution on the flexural side of large joints. Histologic examination shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers, with abundant abnormal keratohyaline granules in differentiated keratinocytes (summary by Dahlqvist et al., 2010).

All reported patients have the same homozygous 1bp deletion in 5' UTR. (c.-95del) PMID: 32425927.

also causes autosomal dominant Proteasome-associated autoinflammatory syndrome-2, which seems to be associated with PTCs.
Created: 23 Jan 2025, 1:17 a.m. | Last Modified: 23 Jan 2025, 1:17 a.m.
Panel Version: 1.1268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
OMIM
613386
Clinvar variants
Variants in POMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POMP were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMP was added gene: POMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)