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Palmoplantar keratodermas v3.22 POMP Arina Puzriakova Tag Q1_24_demote_red tag was added to gene: POMP.
Tag Q1_24_expert_review tag was added to gene: POMP.
Palmoplantar keratodermas v3.22 POMP Arina Puzriakova changed review comment from: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group.

There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2).

If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review).

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Supporting evidence (reviews copied from R165 panel):

Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation.

PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.; to: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group.

PPK is a key feature of KLICK syndrome, and there are sufficient cases to support causation (PMID:20226437 and PMID:27503413). However, the pathogenic variant reported in all cases so far is the same 1bp deletion in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2).

If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review).

---
Supporting evidence (reviews copied from R165 panel):

Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation.

PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
Palmoplantar keratodermas v3.22 POMP Arina Puzriakova Publications for gene: POMP were set to 27503413; 20226437
Palmoplantar keratodermas v3.21 POMP Arina Puzriakova Phenotypes for gene: POMP were changed from Keratosis linearis with ichthyosis congenita and sclerosing keratoderma to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Palmoplantar keratodermas v3.20 POMP Arina Puzriakova Publications for gene: POMP were set to
Palmoplantar keratodermas v3.19 POMP Arina Puzriakova Classified gene: POMP as Green List (high evidence)
Palmoplantar keratodermas v3.19 POMP Arina Puzriakova Added comment: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group.

There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2).

If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review).

---
Supporting evidence (reviews copied from R165 panel):

Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation.

PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
Palmoplantar keratodermas v3.19 POMP Arina Puzriakova Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar keratodermas v3.18 POMP Arina Puzriakova Classified gene: POMP as Green List (high evidence)
Palmoplantar keratodermas v3.18 POMP Arina Puzriakova Added comment: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group.

There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2).

If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review).

---
Supporting evidence (reviews copied from R165 panel):

Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation.

PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
Palmoplantar keratodermas v3.18 POMP Arina Puzriakova Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar keratodermas v3.17 POMP Arina Puzriakova Tag promoter tag was added to gene: POMP.
Tag non-coding-known-pathogenic tag was added to gene: POMP.
Palmoplantar keratodermas v0.5 POMP Rebecca Foulger Source London North GLH was added to POMP.
Palmoplantar keratodermas v0.4 POMP Rebecca Foulger reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.3 POMP Rebecca Foulger gene: POMP was added
gene: POMP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
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