Activity

Filter

Cancel
Date Panel Item Activity
345 actions
Palmoplantar keratodermas v3.25 ABHD5 Arina Puzriakova Phenotypes for gene: ABHD5 were changed from Neutral lipid storage disease to Chanarin-Dorfman syndrome, OMIM:275630
Palmoplantar keratodermas v3.24 PEX7 Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PEX7.
Palmoplantar keratodermas v3.24 PEX7 Sarah Leigh reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v3.24 MVK Sarah Leigh reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v3.24 MVK Sarah Leigh Tag Q1_24_demote_red tag was added to gene: MVK.
Tag Q1_24_expert_review tag was added to gene: MVK.
Palmoplantar keratodermas v3.24 CLDN1 Sarah Leigh Tag Q1_24_demote_red tag was added to gene: CLDN1.
Tag Q1_24_expert_review tag was added to gene: CLDN1.
Palmoplantar keratodermas v3.24 CLDN1 Sarah Leigh reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v3.24 CASP14 Sarah Leigh edited their review of gene: CASP14: Changed rating: RED
Palmoplantar keratodermas v3.24 CASP14 Sarah Leigh reviewed gene: CASP14: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v3.24 CASP14 Sarah Leigh Tag Q1_24_demote_red tag was added to gene: CASP14.
Tag Q1_24_expert_review tag was added to gene: CASP14.
Palmoplantar keratodermas v3.24 PHYH Sarah Leigh Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, OMIM:266500
Palmoplantar keratodermas v3.23 PHYH Sarah Leigh reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v3.23 PHYH Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PHYH.
Tag Q1_24_expert_review tag was added to gene: PHYH.
Palmoplantar keratodermas v3.23 SLC27A4 Sarah Leigh Tag Q1_24_expert_review tag was added to gene: SLC27A4.
Palmoplantar keratodermas v3.23 SLC27A4 Sarah Leigh Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, OMIM:608649
Palmoplantar keratodermas v3.22 SLC27A4 Sarah Leigh Tag Q1_24_demote_red tag was added to gene: SLC27A4.
Palmoplantar keratodermas v3.22 SLC27A4 Sarah Leigh reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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).

---
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 v3.17 SASH1 Arina Puzriakova Mode of inheritance for gene: SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v3.16 SASH1 Arina Puzriakova Phenotypes for gene: SASH1 were changed from Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo) to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Palmoplantar keratodermas v3.15 FAM83G Arina Puzriakova Publications for gene: FAM83G were set to 29138053
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Amber inline with expert review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v3.13 FLG2 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: FLG2.
Tag Q4_23_NHS_review tag was added to gene: FLG2.
Palmoplantar keratodermas v3.13 FLG2 Arina Puzriakova Classified gene: FLG2 as Amber List (moderate evidence)
Palmoplantar keratodermas v3.13 FLG2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
Palmoplantar keratodermas v3.13 FLG2 Arina Puzriakova Gene: flg2 has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v3.12 FLG2 Arina Puzriakova Publications for gene: FLG2 were set to PubMed: 28884927; 29505760
Palmoplantar keratodermas v3.11 FLG2 Arina Puzriakova Phenotypes for gene: FLG2 were changed from peeling skin syndrome-6 (PSS6) (MIM 618084) to Peeling skin syndrome 6, OMIM: 618084
Palmoplantar keratodermas v3.10 TGM5 Arina Puzriakova Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
Palmoplantar keratodermas v3.9 TGM5 Arina Puzriakova Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796
Palmoplantar keratodermas v3.8 TGM5 Arina Puzriakova Classified gene: TGM5 as Amber List (moderate evidence)
Palmoplantar keratodermas v3.8 TGM5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
Palmoplantar keratodermas v3.8 TGM5 Arina Puzriakova Gene: tgm5 has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v3.7 TGM5 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: TGM5.
Tag Q4_23_NHS_review tag was added to gene: TGM5.
Palmoplantar keratodermas v3.7 SERPINB8 Arina Puzriakova Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115
Palmoplantar keratodermas v3.6 SERPINB8 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SERPINB8.
Tag Q4_23_NHS_review tag was added to gene: SERPINB8.
Palmoplantar keratodermas v3.6 SERPINB8 Arina Puzriakova Classified gene: SERPINB8 as Amber List (moderate evidence)
Palmoplantar keratodermas v3.6 SERPINB8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques.
Palmoplantar keratodermas v3.6 SERPINB8 Arina Puzriakova Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v3.2 SERPINB8 Tom Cullup gene: SERPINB8 was added
gene: SERPINB8 was added to Palmoplantar keratodermas. Sources: Expert list
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to PubMed: 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5
Penetrance for gene: SERPINB8 were set to unknown
Review for gene: SERPINB8 was set to GREEN
Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Palmoplantar keratodermas v3.2 TGM5 Tom Cullup gene: TGM5 was added
gene: TGM5 was added to Palmoplantar keratodermas. Sources: Expert list
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2
Penetrance for gene: TGM5 were set to unknown
Review for gene: TGM5 was set to GREEN
Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Palmoplantar keratodermas v3.2 FLG2 Tom Cullup gene: FLG2 was added
gene: FLG2 was added to Palmoplantar keratodermas. Sources: Expert list
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to PubMed: 28884927; 29505760
Phenotypes for gene: FLG2 were set to peeling skin syndrome-6 (PSS6) (MIM 618084)
Penetrance for gene: FLG2 were set to unknown
Review for gene: FLG2 was set to GREEN
Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Palmoplantar keratodermas v3.2 FAM83G Tom Cullup reviewed gene: FAM83G: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29138053, 31656861, 29963719; Phenotypes: palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Palmoplantar keratodermas v3.0 Sarah Leigh promoted panel to version 3.0
Palmoplantar keratodermas v2.7 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
Palmoplantar keratodermas v2.7 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to
Palmoplantar keratodermas v2.6 DSC3 Arina Puzriakova Tag Q2_22_MOI was removed from gene: DSC3.
Palmoplantar keratodermas v2.6 CDSN Arina Puzriakova Tag Q2_22_rating was removed from gene: CDSN.
Tag Q2_22_expert_review was removed from gene: CDSN.
Palmoplantar keratodermas v2.6 SPINK5 Arina Puzriakova Tag Q4_21_MOI was removed from gene: SPINK5.
Palmoplantar keratodermas v2.6 SLURP1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: SLURP1.
Palmoplantar keratodermas v2.6 DSC2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: DSC2.
Palmoplantar keratodermas v2.6 CDSN Arina Puzriakova commented on gene: CDSN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.
Palmoplantar keratodermas v2.6 SPINK5 Arina Puzriakova commented on gene: SPINK5
Palmoplantar keratodermas v2.6 SLURP1 Arina Puzriakova commented on gene: SLURP1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Palmoplantar keratodermas v2.6 DSC3 Arina Puzriakova commented on gene: DSC3
Palmoplantar keratodermas v2.6 DSC2 Arina Puzriakova commented on gene: DSC2
Palmoplantar keratodermas v2.5 SPINK5 Arina Puzriakova Mode of inheritance for gene SPINK5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 SLURP1 Arina Puzriakova Mode of inheritance for gene SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 DSC3 Arina Puzriakova Mode of inheritance for gene DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 DSC2 Arina Puzriakova Mode of inheritance for gene DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.4 PERP Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: PERP.
Palmoplantar keratodermas v2.4 PERP Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Dominant and Recessive Keratoderma to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; Ichthyosis, MONDO:0019269
Palmoplantar keratodermas v2.3 PERP Achchuthan Shanmugasundram Publications for gene: PERP were set to 30321533
Palmoplantar keratodermas v2.2 PERP Achchuthan Shanmugasundram Classified gene: PERP as Amber List (moderate evidence)
Palmoplantar keratodermas v2.2 PERP Achchuthan Shanmugasundram Gene: perp has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v2.1 PERP Achchuthan Shanmugasundram reviewed gene: PERP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898316, 30321533, 31361044, 34265120, 34863005, 32593191; Phenotypes: Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269, Alopecia universalis, Congenital hypotrichosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Palmoplantar keratodermas v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Palmoplantar keratodermas v1.21 JUP Arina Puzriakova Added comment: Comment on mode of inheritance: Pathogenic heterozygous germline variants in JUP are associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) without abnormalities of hair or skin. On the other hand, recessive variants are associated with Naxos disease which manifests a range of ectodermal features including palmoplantar keratoderma.

Therefore, the MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.
Palmoplantar keratodermas v1.21 JUP Arina Puzriakova Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.20 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease; Desmosomal disorders to Naxos disease, OMIM:601214; Palmoplantar keratoderma, keratoderma with woolly hair
Palmoplantar keratodermas v1.19 JUP Arina Puzriakova Tag Q4_22_MOI tag was added to gene: JUP.
Palmoplantar keratodermas v1.19 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Desmosomal disorders to 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)
Palmoplantar keratodermas v1.18 STK11 Arina Puzriakova commented on gene: STK11
Palmoplantar keratodermas v1.17 STK11 Arina Puzriakova Source Expert Review Red was added to STK11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Palmoplantar keratodermas v1.16 DSC3 Eleanor Williams Phenotypes for gene: DSC3 were changed from Desmosomal disorders; Palmoplantar keratoderma, woolly hair to Desmosomal disorders; Palmoplantar keratoderma, woolly hair; Hypotrichosis and recurrent skin vesicles, OMIM:613102; hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136
Palmoplantar keratodermas v1.15 DSC3 Eleanor Williams Publications for gene: DSC3 were set to
Palmoplantar keratodermas v1.14 DSC3 Eleanor Williams changed review comment from: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance.

Two cases reported, both with homozygous variants in the affected individuals.

PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3.

PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727*) was identified. The parents and unaffected sister were heterozygous for this variant.; to: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance.

Two cases reported, both with homozygous variants in the affected individuals.

PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3.

PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727*) was identified. The parents and unaffected sister were heterozygous for this variant.

PMID: 18682494 - Chen et al 2008 - mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
Palmoplantar keratodermas v1.14 DSC3 Eleanor Williams Added comment: Comment on mode of inheritance: Only cases with homozygous variants have been reported, therefore it is recommended that the mode of inheritance is changed to Biallelic only following GMS review.
Palmoplantar keratodermas v1.14 DSC3 Eleanor Williams Mode of inheritance for gene: DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.13 DSC3 Eleanor Williams Tag Q2_22_MOI tag was added to gene: DSC3.
Palmoplantar keratodermas v1.13 DSC3 Eleanor Williams commented on gene: DSC3
Palmoplantar keratodermas v1.13 SLURP1 Arina Puzriakova Tag Q2_21_MOI was removed from gene: SLURP1.
Tag Q2_22_MOI tag was added to gene: SLURP1.
Palmoplantar keratodermas v1.13 CDSN Arina Puzriakova Tag Q2_22_rating tag was added to gene: CDSN.
Tag Q2_22_expert_review tag was added to gene: CDSN.
Palmoplantar keratodermas v1.13 CDSN Arina Puzriakova commented on gene: CDSN
Palmoplantar keratodermas v1.13 SLURP1 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: SLURP1.
Palmoplantar keratodermas v1.13 SLURP1 Arina Puzriakova reviewed gene: SLURP1: Rating: ; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, OMIM:248300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Palmoplantar keratodermas v1.13 SLURP1 Arina Puzriakova Phenotypes for gene: SLURP1 were changed from Mal de Meleda to Meleda disease, OMIM:248300
Palmoplantar keratodermas v1.12 ST14 Catherine Snow Tag for-review was removed from gene: ST14.
Palmoplantar keratodermas v1.12 ST14 Catherine Snow commented on gene: ST14
Palmoplantar keratodermas v1.11 ST14 Catherine Snow Source Expert Review Red was added to ST14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Palmoplantar keratodermas v1.10 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from porokeratosis of Mibelli; Actinic porokeratosis to Porokeratosis 3, multiple types, OMIM:175900
Palmoplantar keratodermas v1.9 DSC2 Ivone Leong Tag Q4_21_MOI tag was added to gene: DSC2.
Palmoplantar keratodermas v1.9 DSC2 Ivone Leong reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.9 SPINK5 Ivone Leong reviewed gene: SPINK5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.9 SPINK5 Ivone Leong Tag Q4_21_MOI tag was added to gene: SPINK5.
Palmoplantar keratodermas v1.9 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Oculodentodigital dysplasia, OMIM:164200
Palmoplantar keratodermas v1.8 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome, OMIM:270200
Palmoplantar keratodermas v1.7 SULT2B1 Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14; 617571 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Palmoplantar keratodermas v1.6 ST14 Sarah Leigh Publications for gene: ST14 were set to
Palmoplantar keratodermas v1.5 ST14 Sarah Leigh Classified gene: ST14 as Green List (high evidence)
Palmoplantar keratodermas v1.5 ST14 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel, so it should be changed to RED at the next major review.
Palmoplantar keratodermas v1.5 ST14 Sarah Leigh Gene: st14 has been classified as Green List (High Evidence).
Palmoplantar keratodermas v1.4 ST14 Sarah Leigh Tag for-review tag was added to gene: ST14.
Palmoplantar keratodermas v1.4 ST14 Sarah Leigh reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: 17273967, 18445049, 18843291, 29611532; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Palmoplantar keratodermas v1.3 ARSE Zornitza Stark reviewed gene: ARSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Palmoplantar keratodermas v1.3 CASP14 Zornitza Stark reviewed gene: CASP14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 CLDN1 Zornitza Stark reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: 15521008; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (MIM#607626); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 MVK Zornitza Stark reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porokeratosis 3, multiple types, MIM# 175900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas v1.3 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B (AR), Rhizomelic chondrodysplasia punctata, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 PHYH Zornitza Stark reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease (MIM#266500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 SLC27A4 Zornitza Stark reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis prematurity syndrome (MIM#608649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 ST14 Zornitza Stark reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 (MIM#602400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v1.3 STK11 Zornitza Stark reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome (MIM#175200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas v1.3 Sarah Leigh Panel version has been signed off
Palmoplantar keratodermas v1.0 LOR Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
Palmoplantar keratodermas v1.0 LOR Louise Daugherty commented on gene: LOR
Palmoplantar keratodermas v1.0 Catherine Snow promoted panel to version 1.0
Palmoplantar keratodermas v0.11 Catherine Snow List of related panels changed from to R166
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Palmoplantar keratodermas v0.10 FLG Catherine Snow Publications for gene: FLG were set to
Palmoplantar keratodermas v0.9 STK11 Catherine Snow reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.8 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Palmoplantar keratodermas v0.8 ARSE Louise Daugherty commented on gene: ARSE
Palmoplantar keratodermas v0.8 STK11 Catherine Snow gene: STK11 was added
gene: STK11 was added to Palmoplantar keratodermas. Sources: Expert Review Amber
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar keratodermas v0.5 SASH1 Rebecca Foulger Source London North GLH was added to SASH1.
Palmoplantar keratodermas v0.5 PKP2 Rebecca Foulger Source London North GLH was added to PKP2.
Palmoplantar keratodermas v0.5 PERP Rebecca Foulger Source London North GLH was added to PERP.
Palmoplantar keratodermas v0.5 FAM83G Rebecca Foulger Source London North GLH was added to FAM83G.
Palmoplantar keratodermas v0.5 DSG2 Rebecca Foulger Source London North GLH was added to DSG2.
Palmoplantar keratodermas v0.5 DSC1 Rebecca Foulger Source London North GLH was added to DSC1.
Palmoplantar keratodermas v0.5 VPS33B Rebecca Foulger Source London North GLH was added to VPS33B.
Palmoplantar keratodermas v0.5 TRPV3 Rebecca Foulger Source London North GLH was added to TRPV3.
Palmoplantar keratodermas v0.5 TGM1 Rebecca Foulger Source London North GLH was added to TGM1.
Palmoplantar keratodermas v0.5 SULT2B1 Rebecca Foulger Source London North GLH was added to SULT2B1.
Palmoplantar keratodermas v0.5 STS Rebecca Foulger Source London North GLH was added to STS.
Palmoplantar keratodermas v0.5 ST14 Rebecca Foulger Source London North GLH was added to ST14.
Palmoplantar keratodermas v0.5 SPINK5 Rebecca Foulger Source London North GLH was added to SPINK5.
Palmoplantar keratodermas v0.5 SNAP29 Rebecca Foulger Source London North GLH was added to SNAP29.
Palmoplantar keratodermas v0.5 SLURP1 Rebecca Foulger Source London North GLH was added to SLURP1.
Palmoplantar keratodermas v0.5 SLC27A4 Rebecca Foulger Source London North GLH was added to SLC27A4.
Palmoplantar keratodermas v0.5 SERPINB7 Rebecca Foulger Source London North GLH was added to SERPINB7.
Palmoplantar keratodermas v0.5 SDR9C7 Rebecca Foulger Source London North GLH was added to SDR9C7.
Palmoplantar keratodermas v0.5 RSPO1 Rebecca Foulger Source London North GLH was added to RSPO1.
Palmoplantar keratodermas v0.5 RHBDF2 Rebecca Foulger Source London North GLH was added to RHBDF2.
Palmoplantar keratodermas v0.5 POMP Rebecca Foulger Source London North GLH was added to POMP.
Palmoplantar keratodermas v0.5 PNPLA1 Rebecca Foulger Source London North GLH was added to PNPLA1.
Palmoplantar keratodermas v0.5 PKP1 Rebecca Foulger Source London North GLH was added to PKP1.
Palmoplantar keratodermas v0.5 PHYH Rebecca Foulger Source London North GLH was added to PHYH.
Palmoplantar keratodermas v0.5 PEX7 Rebecca Foulger Source London North GLH was added to PEX7.
Palmoplantar keratodermas v0.5 NSDHL Rebecca Foulger Source London North GLH was added to NSDHL.
Palmoplantar keratodermas v0.5 NIPAL4 Rebecca Foulger Source London North GLH was added to NIPAL4.
Palmoplantar keratodermas v0.5 MVK Rebecca Foulger Source London North GLH was added to MVK.
Palmoplantar keratodermas v0.5 MBTPS2 Rebecca Foulger Source London North GLH was added to MBTPS2.
Palmoplantar keratodermas v0.5 LOR Rebecca Foulger Source London North GLH was added to LOR.
Palmoplantar keratodermas v0.5 LIPN Rebecca Foulger Source London North GLH was added to LIPN.
Palmoplantar keratodermas v0.5 KRT9 Rebecca Foulger Source London North GLH was added to KRT9.
Palmoplantar keratodermas v0.5 KRT6C Rebecca Foulger Source London North GLH was added to KRT6C.
Palmoplantar keratodermas v0.5 KRT2 Rebecca Foulger Source London North GLH was added to KRT2.
Palmoplantar keratodermas v0.5 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Palmoplantar keratodermas v0.5 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Palmoplantar keratodermas v0.5 KDSR Rebecca Foulger Source London North GLH was added to KDSR.
Palmoplantar keratodermas v0.5 KANK2 Rebecca Foulger Source London North GLH was added to KANK2.
Palmoplantar keratodermas v0.5 JUP Rebecca Foulger Source London North GLH was added to JUP.
Palmoplantar keratodermas v0.5 GJB2 Rebecca Foulger Source London North GLH was added to GJB2.
Palmoplantar keratodermas v0.5 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Palmoplantar keratodermas v0.5 FLG Rebecca Foulger Source London North GLH was added to FLG.
Palmoplantar keratodermas v0.5 ENPP1 Rebecca Foulger Source London North GLH was added to ENPP1.
Palmoplantar keratodermas v0.5 ELOVL4 Rebecca Foulger Source London North GLH was added to ELOVL4.
Palmoplantar keratodermas v0.5 EBP Rebecca Foulger Source London North GLH was added to EBP.
Palmoplantar keratodermas v0.5 DSP Rebecca Foulger Source London North GLH was added to DSP.
Palmoplantar keratodermas v0.5 DSG4 Rebecca Foulger Source London North GLH was added to DSG4.
Palmoplantar keratodermas v0.5 DSG1 Rebecca Foulger Source London North GLH was added to DSG1.
Palmoplantar keratodermas v0.5 DSC3 Rebecca Foulger Source London North GLH was added to DSC3.
Palmoplantar keratodermas v0.5 DSC2 Rebecca Foulger Source London North GLH was added to DSC2.
Palmoplantar keratodermas v0.5 CYP4F22 Rebecca Foulger Source London North GLH was added to CYP4F22.
Palmoplantar keratodermas v0.5 CTSC Rebecca Foulger Source London North GLH was added to CTSC.
Palmoplantar keratodermas v0.5 CSTA Rebecca Foulger Source London North GLH was added to CSTA.
Palmoplantar keratodermas v0.5 CLDN1 Rebecca Foulger Source London North GLH was added to CLDN1.
Palmoplantar keratodermas v0.5 CERS3 Rebecca Foulger Source London North GLH was added to CERS3.
Palmoplantar keratodermas v0.5 CDSN Rebecca Foulger Source London North GLH was added to CDSN.
Palmoplantar keratodermas v0.5 CAST Rebecca Foulger Source London North GLH was added to CAST.
Palmoplantar keratodermas v0.5 CASP14 Rebecca Foulger Source London North GLH was added to CASP14.
Palmoplantar keratodermas v0.5 ARSE Rebecca Foulger Source London North GLH was added to ARSE.
Palmoplantar keratodermas v0.5 AQP5 Rebecca Foulger Source London North GLH was added to AQP5.
Palmoplantar keratodermas v0.5 AP1S1 Rebecca Foulger Source London North GLH was added to AP1S1.
Palmoplantar keratodermas v0.5 ALOXE3 Rebecca Foulger Source London North GLH was added to ALOXE3.
Palmoplantar keratodermas v0.5 ALOX12B Rebecca Foulger Source London North GLH was added to ALOX12B.
Palmoplantar keratodermas v0.5 ALDH3A2 Rebecca Foulger Source London North GLH was added to ALDH3A2.
Palmoplantar keratodermas v0.5 ADAM17 Rebecca Foulger Source London North GLH was added to ADAM17.
Palmoplantar keratodermas v0.5 ABHD5 Rebecca Foulger Source London North GLH was added to ABHD5.
Palmoplantar keratodermas v0.5 ABCA12 Rebecca Foulger Source London North GLH was added to ABCA12.
Palmoplantar keratodermas v0.5 AAGAB Rebecca Foulger Source London North GLH was added to AAGAB.
Palmoplantar keratodermas v0.4 VPS33B Rebecca Foulger reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 TRPV3 Rebecca Foulger reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 TGM1 Rebecca Foulger reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SULT2B1 Rebecca Foulger reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 STS Rebecca Foulger reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ST14 Rebecca Foulger reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SPINK5 Rebecca Foulger reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SNAP29 Rebecca Foulger reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SLURP1 Rebecca Foulger reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SLC27A4 Rebecca Foulger reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SERPINB7 Rebecca Foulger reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 SDR9C7 Rebecca Foulger reviewed gene: SDR9C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 SASH1 Rebecca Foulger reviewed gene: SASH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 RSPO1 Rebecca Foulger reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 RHBDF2 Rebecca Foulger reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 POMP Rebecca Foulger reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PKP2 Rebecca Foulger reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PKP1 Rebecca Foulger reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PHYH Rebecca Foulger reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PERP Rebecca Foulger reviewed gene: PERP: Rating: RED; Mode of pathogenicity: ; Publications: 30321533; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 NIPAL4 Rebecca Foulger reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 MVK Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 MBTPS2 Rebecca Foulger reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 LOR Rebecca Foulger reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 LIPN Rebecca Foulger reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT9 Rebecca Foulger reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT6C Rebecca Foulger reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT2 Rebecca Foulger reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KDSR Rebecca Foulger reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 KANK2 Rebecca Foulger reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 JUP Rebecca Foulger reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 FLG Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 FAM83G Rebecca Foulger reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: ; Publications: 29138053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ELOVL4 Rebecca Foulger reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 EBP Rebecca Foulger reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSP Rebecca Foulger reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSG4 Rebecca Foulger reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSG2 Rebecca Foulger reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 DSG1 Rebecca Foulger reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC3 Rebecca Foulger reviewed gene: DSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC2 Rebecca Foulger reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC1 Rebecca Foulger reviewed gene: DSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 CYP4F22 Rebecca Foulger reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CTSC Rebecca Foulger reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CLDN1 Rebecca Foulger reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CERS3 Rebecca Foulger reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CDSN Rebecca Foulger reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CAST Rebecca Foulger reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 CASP14 Rebecca Foulger reviewed gene: CASP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AQP5 Rebecca Foulger reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AP1S1 Rebecca Foulger reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALOXE3 Rebecca Foulger reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALOX12B Rebecca Foulger reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALDH3A2 Rebecca Foulger reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ADAM17 Rebecca Foulger reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ABHD5 Rebecca Foulger reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ABCA12 Rebecca Foulger reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AAGAB Rebecca Foulger reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.3 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis syndrome
Palmoplantar keratodermas v0.3 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV3 were set to Olmstedt syndrome
Palmoplantar keratodermas v0.3 TGM1 Rebecca Foulger gene: TGM1 was added
gene: TGM1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 SULT2B1 Rebecca Foulger gene: SULT2B1 was added
gene: SULT2B1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14; 617571
Palmoplantar keratodermas v0.3 STS Rebecca Foulger gene: STS was added
gene: STS was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to X linked ichthyosis
Palmoplantar keratodermas v0.3 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 SPINK5 Rebecca Foulger gene: SPINK5 was added
gene: SPINK5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPINK5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton Syndrome
Palmoplantar keratodermas v0.3 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Palmoplantar keratodermas v0.3 SLURP1 Rebecca Foulger gene: SLURP1 was added
gene: SLURP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLURP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLURP1 were set to Mal de Meleda
Palmoplantar keratodermas v0.3 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
Palmoplantar keratodermas v0.3 SERPINB7 Rebecca Foulger gene: SERPINB7 was added
gene: SERPINB7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINB7 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 SDR9C7 Rebecca Foulger gene: SDR9C7 was added
gene: SDR9C7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to 617574; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
Palmoplantar keratodermas v0.3 SASH1 Rebecca Foulger gene: SASH1 was added
gene: SASH1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Palmoplantar keratodermas v0.3 RSPO1 Rebecca Foulger gene: RSPO1 was added
gene: RSPO1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO1 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 RHBDF2 Rebecca Foulger gene: RHBDF2 was added
gene: RHBDF2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHBDF2 were set to Tylosis with esophageal cancer
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
Palmoplantar keratodermas v0.3 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 PKP2 Rebecca Foulger gene: PKP2 was added
gene: PKP2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PKP2 was set to
Phenotypes for gene: PKP2 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 PKP1 Rebecca Foulger gene: PKP1 was added
gene: PKP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKP1 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 PHYH Rebecca Foulger gene: PHYH was added
gene: PHYH was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Palmoplantar keratodermas v0.3 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Palmoplantar keratodermas v0.3 PERP Rebecca Foulger gene: PERP was added
gene: PERP was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PERP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PERP were set to 30321533
Phenotypes for gene: PERP were set to Dominant and Recessive Keratoderma
Palmoplantar keratodermas v0.3 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NSDHL were set to CHILD syndrome
Palmoplantar keratodermas v0.3 NIPAL4 Rebecca Foulger gene: NIPAL4 was added
gene: NIPAL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MVK were set to porokeratosis of Mibelli; Actinic porokeratosis
Palmoplantar keratodermas v0.3 MBTPS2 Rebecca Foulger gene: MBTPS2 was added
gene: MBTPS2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Olmstedt syndrome; IFAP syndrome; Keratosis follicularis spinulosa decalvans
Palmoplantar keratodermas v0.3 LOR Rebecca Foulger gene: LOR was added
gene: LOR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOR were set to Loricrin keratoderma
Palmoplantar keratodermas v0.3 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 KRT9 Rebecca Foulger gene: KRT9 was added
gene: KRT9 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT9 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 KRT6C Rebecca Foulger gene: KRT6C was added
gene: KRT6C was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 KRT2 Rebecca Foulger gene: KRT2 was added
gene: KRT2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT2 were set to Autosomal dominant ichthyosis
Palmoplantar keratodermas v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Pachyonychia congenita; Palmoplantar keratoderma; Ichythosis with confetti; Epidermolytic hyperkeratosis
Palmoplantar keratodermas v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis
Palmoplantar keratodermas v0.3 KDSR Rebecca Foulger gene: KDSR was added
gene: KDSR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4
Palmoplantar keratodermas v0.3 KANK2 Rebecca Foulger gene: KANK2 was added
gene: KANK2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 JUP Rebecca Foulger gene: JUP was added
gene: JUP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease; Desmosomal disorders
Palmoplantar keratodermas v0.3 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
Palmoplantar keratodermas v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 25398053
Phenotypes for gene: GJA1 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS
Palmoplantar keratodermas v0.3 FAM83G Rebecca Foulger gene: FAM83G was added
gene: FAM83G was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENPP1 were set to Cole disease
Palmoplantar keratodermas v0.3 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ELOVL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, mental retardation
Palmoplantar keratodermas v0.3 EBP Rebecca Foulger gene: EBP was added
gene: EBP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to Conradi-Hunnermann-Happle syndrome
Palmoplantar keratodermas v0.3 DSP Rebecca Foulger gene: DSP was added
gene: DSP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG4 Rebecca Foulger gene: DSG4 was added
gene: DSG4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG4 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG2 Rebecca Foulger gene: DSG2 was added
gene: DSG2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DSG2 was set to
Phenotypes for gene: DSG2 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG1 Rebecca Foulger gene: DSG1 was added
gene: DSG1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSG1 were set to Palmoplantar keratoderma; Congenital erythroderma with palmoplantar keratoderma; Desmosomal disorders
Palmoplantar keratodermas v0.3 DSC3 Rebecca Foulger gene: DSC3 was added
gene: DSC3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC3 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 DSC2 Rebecca Foulger gene: DSC2 was added
gene: DSC2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 DSC1 Rebecca Foulger gene: DSC1 was added
gene: DSC1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DSC1 was set to
Phenotypes for gene: DSC1 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 CYP4F22 Rebecca Foulger gene: CYP4F22 was added
gene: CYP4F22 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 CTSC Rebecca Foulger gene: CTSC was added
gene: CTSC was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefvre syndrome
Palmoplantar keratodermas v0.3 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to susceptibility to psoriasis; susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome
Palmoplantar keratodermas v0.3 CLDN1 Rebecca Foulger gene: CLDN1 was added
gene: CLDN1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Neonatal ichthyosis-sclerosing cholangitis syndrome
Palmoplantar keratodermas v0.3 CERS3 Rebecca Foulger gene: CERS3 was added
gene: CERS3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 CDSN Rebecca Foulger gene: CDSN was added
gene: CDSN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CDSN were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 CAST Rebecca Foulger gene: CAST was added
gene: CAST was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Palmoplantar keratodermas v0.3 CASP14 Rebecca Foulger gene: CASP14 was added
gene: CASP14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12; 617320
Palmoplantar keratodermas v0.3 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata
Palmoplantar keratodermas v0.3 AQP5 Rebecca Foulger gene: AQP5 was added
gene: AQP5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 AP1S1 Rebecca Foulger gene: AP1S1 was added
gene: AP1S1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome
Palmoplantar keratodermas v0.3 ALOXE3 Rebecca Foulger gene: ALOXE3 was added
gene: ALOXE3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 ALOX12B Rebecca Foulger gene: ALOX12B was added
gene: ALOX12B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Palmoplantar keratodermas v0.3 ADAM17 Rebecca Foulger gene: ADAM17 was added
gene: ADAM17 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal
Palmoplantar keratodermas v0.3 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Neutral lipid storage disease
Palmoplantar keratodermas v0.3 ABCA12 Rebecca Foulger gene: ABCA12 was added
gene: ABCA12 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to autosomal recessive congenital ichthyosis; Harlequin ichthyosis
Palmoplantar keratodermas v0.3 AAGAB Rebecca Foulger gene: AAGAB was added
gene: AAGAB was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AAGAB were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Palmoplantar keratodermas v0.0 Ellen McDonagh Added Panel Palmoplantar keratodermas
Set panel types to: GMS Rare Disease