Prepair 1000+

Gene: POMP

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

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

• 32425927