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Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: PSMB10.
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Classified gene: PSMB10 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants, presenting with a chronic inflammatory skin rash. Hence, this gene should be promoted to Green with MOI BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v4.17 PSMB10 Ida Ertmanska gene: PSMB10 was added
gene: PSMB10 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057; 36250618; 37600812; 38503300; 39734035
Phenotypes for gene: PSMB10 were set to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Review for gene: PSMB10 was set to GREEN
Added comment: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).
Sources: Literature
Rare genetic inflammatory skin disorders v4.16 NLRP1 Ida Ertmanska commented on gene: NLRP1: Comment on mode of inheritance: As there are now 3 unrelated cases reported with biallelic NLRP1 variants and an inflammatory skin disorder, the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Rare genetic inflammatory skin disorders v4.16 NLRP1 Ida Ertmanska Phenotypes for gene: NLRP1 were changed from AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS to Autoinflammation with arthritis and dyskeratosis, OMIM:617388; Palmoplantar carcinoma, multiple self-healing, OMIM:615225
Rare genetic inflammatory skin disorders v4.15 NLRP1 Ida Ertmanska Publications for gene: NLRP1 were set to 27965258
Rare genetic inflammatory skin disorders v4.14 NLRP1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: NLRP1.
Rare genetic inflammatory skin disorders v4.14 NLRP1 Ida Ertmanska reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36763876; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, Palmoplantar carcinoma, multiple self-healing, OMIM:615225; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v4.13 MVK Ida Ertmanska Phenotypes for gene: MVK were changed from Porokeratosis 3, multiple types, OMIM:175900 to Porokeratosis 3, multiple types, OMIM:175900; porokeratosis 3, disseminated superficial actinic type, MONDO:0008293
Rare genetic inflammatory skin disorders v4.12 MVK Ida Ertmanska Publications for gene: MVK were set to 26794421; 39386107
Rare genetic inflammatory skin disorders v4.11 MVK Ida Ertmanska changed review comment from: PMID: 39386107 Zhao et al., 2024
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT).
Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA.

PMID: 31753123 Atzmony et al., 2019
Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS.

PMID: 31207227 Kubo et al., 2019
DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T.

PMID: 26794421 Liu et al., 2016
Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT.

PMID: 22983302 Zhang et al., 2012
Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis.

MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025).
Sources: Literature; to: PMID: 39386107 Zhao et al., 2024
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT).
Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA.

PMID: 31753123 Atzmony et al., 2019
Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS.

PMID: 31207227 Kubo et al., 2019
DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T.

PMID: 26794421 Liu et al., 2016
Report of three mutations in the MVK gene in six sporadic cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT.

PMID: 22983302 Zhang et al., 2012
Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis.

MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025).
Sources: Literature
Rare genetic inflammatory skin disorders v4.11 MVK Ida Ertmanska edited their review of gene: MVK: Added comment: Comment on list classification: There are at least 9 unrelated families reported in literature with porokeratosis / disseminated superficial actinic porokeratosis (DSAP), with heterozygous germline mutations in MVK, with confirmed postnatal second-hit mosaic MVK mutation in 2 cases. Other genes in the pathway have been implicated in porokeratosis. Based on available evidence, this gene should be promoted to Green for Rare genetic inflammatory skin disorders.; Changed phenotypes to: Porokeratosis 3, multiple types, OMIM:175900, porokeratosis 3, disseminated superficial actinic type, MONDO:0008293
Rare genetic inflammatory skin disorders v4.11 MVK Ida Ertmanska edited their review of gene: MVK: Changed publications to: 22983302, 26794421, 31207227, 31753123, 39386107
Rare genetic inflammatory skin disorders v4.11 MVK Ida Ertmanska Classified gene: MVK as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v4.11 MVK Ida Ertmanska Gene: mvk has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v4.10 MVK Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: MVK.
Rare genetic inflammatory skin disorders v4.10 MVK Ida Ertmanska changed review comment from: PMID: 39386107 Zhao et al., 2024
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT).
Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA.

PMID: 26794421 Liu et al., 2016
Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT.

PMID: 22983302 Zhang et al., 2012
Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis.

MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025).
Sources: Literature; to: PMID: 39386107 Zhao et al., 2024
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT).
Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA.

PMID: 31753123 Atzmony et al., 2019
Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS.

PMID: 31207227 Kubo et al., 2019
DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T.

PMID: 26794421 Liu et al., 2016
Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT.

PMID: 22983302 Zhang et al., 2012
Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis.

MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025).
Sources: Literature
Rare genetic inflammatory skin disorders v4.10 MVK Ida Ertmanska gene: MVK was added
gene: MVK was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVK were set to 26794421; 39386107
Phenotypes for gene: MVK were set to Porokeratosis 3, multiple types, OMIM:175900
Review for gene: MVK was set to GREEN
Added comment: PMID: 39386107 Zhao et al., 2024
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT).
Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA.

PMID: 26794421 Liu et al., 2016
Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT.

PMID: 22983302 Zhang et al., 2012
Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis.

MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025).
Sources: Literature
Rare genetic inflammatory skin disorders v4.9 PMVK Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: PMVK.
Rare genetic inflammatory skin disorders v4.9 PMVK Ida Ertmanska Classified gene: PMVK as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v4.9 PMVK Ida Ertmanska Added comment: Comment on list classification: There are at least 13 unrelated individuals reported in literature with germline heterozygous variants in PMVK, diagnosed with a type of porokeratosis. Based on the available evidence, PMVK should be promoted to Green for Rare genetic inflammatory skin disorders.
Rare genetic inflammatory skin disorders v4.9 PMVK Ida Ertmanska Gene: pmvk has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v4.8 PMVK Ida Ertmanska gene: PMVK was added
gene: PMVK was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 26202976; 27052676; 37315547; 41296516
Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, OMIM:175800; porokeratosis, MONDO:0006602
Review for gene: PMVK was set to GREEN
Added comment: Porokeratosis is characterised by keratotic lesions with an atrophic center rimmed by an elevated border. Disease onset is mostly in childhood or adolescence.

PMID: 26202976 Zhang et al. 2015
Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations:
9 unrelated cases (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*.

PMID: 27052676 Wang et al 2016
Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. Age of onset: mostly between 5-10 yo.

PMID: 37315547 Zhang et al., 2023
Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS.

PMID: 41296516 Narula et al., 2025 (online ahead of print)
20-year-old Indian man, presented with persistent non-pruritic skin lesions since childhood: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676.

This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87).
PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).
Sources: Literature
Rare genetic inflammatory skin disorders v4.7 FECH Ida Ertmanska Tag curated_removed tag was added to gene: FECH.
Rare genetic inflammatory skin disorders v4.7 FECH Ida Ertmanska commented on gene: FECH
Rare genetic inflammatory skin disorders v4.7 FECH Ida Ertmanska Phenotypes for gene: FECH were changed from 177000 to Protoporphyria, erythropoietic, 1, OMIM:177000
Rare genetic inflammatory skin disorders v4.6 AIRE Ida Ertmanska Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411
Rare genetic inflammatory skin disorders v4.5 FLG Arina Puzriakova Classified gene: FLG as Red List (low evidence)
Rare genetic inflammatory skin disorders v4.5 FLG Arina Puzriakova Gene: flg has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v4.4 FLG Arina Puzriakova Mode of inheritance for gene: FLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v4.3 FLG Arina Puzriakova Publications for gene: FLG were set to 16550169
Rare genetic inflammatory skin disorders v4.2 FLG Arina Puzriakova Phenotypes for gene: FLG were changed from Eczema; Ichthyosis vulgaris 146700; Ichthyosis vulgaris to Ichthyosis vulgaris, OMIM:146700; Dermatitis, atopic, susceptibility to, 2, OMIM:605803; hereditary palmoplantar keratoderma, MONDO:0019272
Rare genetic inflammatory skin disorders v4.1 FLG Ida Ertmanska changed review comment from: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next update.

Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).; to: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.

Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).
Rare genetic inflammatory skin disorders v4.1 FLG Ida Ertmanska edited their review of gene: FLG: Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next update.

Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).; Changed publications to: 16444271, 16550169
Rare genetic inflammatory skin disorders v4.1 FLG Ida Ertmanska changed review comment from: As reviewed by Ronnie Wright, FLG is associated with Ichthyosis vulgaris, which does not fit into the current scope of the Rare genetic inflammatory skin disorders panel. It should be rated Red based on the available evidence.

The gene is already rated Green on the following panels: Ichthyosis and erythrokeratoderma and Palmoplantar keratodermas.

FLG is associated with Ichthyosis vulgaris (AD &AR) OMIM:146700 and {Dermatitis, atopic, susceptibility to, 2} AD OMIM: 605803 in OMIM (accessed 18th Sep 2025).; to: Comment on list classification: As reviewed by Ronnie Wright, FLG is associated with Ichthyosis vulgaris, which does not fit into the current scope of the Rare genetic inflammatory skin disorders panel. It should be rated Red based on the available evidence.

The gene is already rated Green on the following panels: Ichthyosis and erythrokeratoderma and Palmoplantar keratodermas.

FLG is associated with Ichthyosis vulgaris (AD &AR) OMIM:146700 and {Dermatitis, atopic, susceptibility to, 2} AD OMIM: 605803 in OMIM (accessed 18th Sep 2025).
Rare genetic inflammatory skin disorders v4.1 FLG Ida Ertmanska reviewed gene: FLG: Rating: RED; Mode of pathogenicity: None; Publications: 16444271; Phenotypes: Ichthyosis vulgaris, OMIM:146700, Dermatitis, atopic, susceptibility to, 2, OMIM: 605803, ichthyosis vulgaris, MONDO:0024304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v4.1 FECH Sharon Whatley gene: FECH was added
gene: FECH was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 7857832; 16911284; 39969427; 32873934; 38940544; 11753383; 16385445
Phenotypes for gene: FECH were set to 177000
Penetrance for gene: FECH were set to Complete
Review for gene: FECH was set to GREEN
Added comment: Relevant metabolic investigation: Erythrocyte metal free protoporphyrin

PMID: 7857832 Todd reports that erythropoietic protoporphyria (EPP) is a rare disorder caused by the partial deficiency of ferrochelatase, the terminal enzyme of haem biosynthesis that is coded by the FECH gene. This results in an increase in protoporphyrin IX that is released from erythroid cells into the vascular endothelium and surrounding tissues. It is activated by visible light, triggering oxidative stress and inflammation. Affected patients usually present with episodes of severe phototoxic pain in light exposed skin.

PMID: 16911284 Holme found the median age of presentation to be less than one year of age although diagnosis was delayed until a median age of 12 years. Infants are extremely sensitive to sunlight, experiencing pain, burning, and swelling of the skin and may present with crying or screaming after being exposed. This acute photosensitivity of sun exposed areas is lifelong.

PMID: 39969427 Levy reported that the accumulation of protoporphyrin in the liver caused cholestatic liver injury in 3.4% of 322 patients with EPP and progressed to severe liver failure in 2.5%.

PMID: 32873934 Dickey reports the EPP prevalence to be 0.0059% (~1 in 17,000) from the UK biobank and suggests that the disorder is underreported. Among more than 155 family cohorts of EPP patients that have been published in the literature, no occurrence of a nonpenetrant disease-associated genotype has been reported. It is therefore assumed that EPP is fully penetrant.

PMID: 38940544 Aarsand reports that the genetics of EPP is complex with ~5% of cases of unknown genomic pathology. There are several different known genetic mechanisms that cause the EPP phenotype including defects in other genes such as ALAS2 found in 2-10% of EPP patients and ALAS2 together with CLPX identified in one patient. Rarely EPP can develop in later life due to genomic instability affecting the FECH gene in myelodysplastic syndromes. Approximately 4% of EPP patients have biallelic pathogenic variants in the FECH gene while most EPP cases are due to a pathogenic FECH variant trans to an intronic variant (c.315-48T>C) that causes low expression of that allele.

PMID: 11753383 Gouya discovered an intronic single nucleotide change c.315-48T>C in intron 3 of the FECH gene that modulates the use of an aberrant splice acceptor site. The aberrantly spliced mRNA is degraded by a nonsense-mediated decay mechanism, producing a decreased level of mRNA. This, in trans to a pathogenic variant was found to cause phenotypic expression of EPP.

PMID: 16385445 Gouya reports that this intronic variant is present in >90% of EPP patients.

The FECH low-expression variant c.315-48T>C has a total allele frequency of 0.06713 and an allele frequency of 0.3803 in those of East Asian ancestry with ~7% of these being homozygotes (GnomAD v4.10). However clinical detection of EPP remains low. Even taking into account underreporting, this suggests that the low expression variant in the homozygous form causes a reduction in the ferrochelatase enzyme activity but not to a level that causes disease, otherwise EPP would be much more common.

It is essential that any genetic sequencing includes the region of intron 3 (c.315-48T>C) that harbours the low expression variant.
Sources: Literature
Rare genetic inflammatory skin disorders v4.1 FLG Ronnie Wright reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16444271; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Rare genetic inflammatory skin disorders v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2025-04-30
Rare genetic inflammatory skin disorders v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Rare genetic inflammatory skin disorders v3.22 NLRP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NLRP1.
Rare genetic inflammatory skin disorders v3.22 GNB1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GNB1.
Rare genetic inflammatory skin disorders v3.22 NLRP1 Achchuthan Shanmugasundram commented on gene: NLRP1: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v3.22 GNB1 Achchuthan Shanmugasundram commented on gene: GNB1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v3.21 NLRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP1.
Source NHS GMS was added to NLRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v3.21 GNB1 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB1.
Source NHS GMS was added to GNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v3.20 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v3.20 RNU12 Arina Puzriakova Phenotypes for gene: RNU12 were changed from porokeratosis; erythematous cutaneous eruption to CDAGS syndrome, OMIM:603116; porokeratosis; erythematous cutaneous eruption
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag gene-checked was removed from gene: RNU12.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova commented on gene: RNU12: Removed 'currently-ngs-unreportable' tag as tiering of non-coding genes including RNU12, has now been added to the Genomics England Rare Disease pipeline. The Ensembl ID for RNU12 has also been added.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: RNU12.
Rare genetic inflammatory skin disorders v3.19 ADAMTS2 Arina Puzriakova Classified gene: ADAMTS2 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.19 ADAMTS2 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.19 ADAMTS2 Arina Puzriakova Gene: adamts2 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.18 COL5A2 Arina Puzriakova Classified gene: COL5A2 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.18 COL5A2 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.18 COL5A2 Arina Puzriakova Gene: col5a2 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.17 COL5A1 Arina Puzriakova Classified gene: COL5A1 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.17 COL5A1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.17 COL5A1 Arina Puzriakova Gene: col5a1 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.16 COL4A5 Arina Puzriakova Classified gene: COL4A5 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.16 COL4A5 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.16 COL4A5 Arina Puzriakova Gene: col4a5 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.15 COL4A4 Arina Puzriakova Classified gene: COL4A4 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.15 COL4A4 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.15 COL4A4 Arina Puzriakova Gene: col4a4 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.14 COL4A3 Arina Puzriakova Classified gene: COL4A3 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.14 COL4A3 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.14 COL4A3 Arina Puzriakova Gene: col4a3 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.13 COL3A1 Arina Puzriakova Classified gene: COL3A1 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.13 COL3A1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.13 COL3A1 Arina Puzriakova Gene: col3a1 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.12 COL1A2 Arina Puzriakova Classified gene: COL1A2 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.12 COL1A2 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.12 COL1A2 Arina Puzriakova Gene: col1a2 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.11 COL1A1 Arina Puzriakova Classified gene: COL1A1 as Red List (low evidence)
Rare genetic inflammatory skin disorders v3.11 COL1A1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Rare genetic inflammatory skin disorders v3.11 COL1A1 Arina Puzriakova Gene: col1a1 has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v3.10 GNB1 Achchuthan Shanmugasundram Classified gene: GNB1 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v3.10 GNB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are five cases reported with cutaneous mastocytosis.

Cutaneous mastocytosis has also been reported as one of the clinical presentations of the OMIM phenotype Intellectual developmental disorder, autosomal dominant 42 (MIM #616973).

Hence, this gene can be promoted to green rating in the next GMS review.
Rare genetic inflammatory skin disorders v3.10 GNB1 Achchuthan Shanmugasundram Gene: gnb1 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v3.9 GNB1 Achchuthan Shanmugasundram Phenotypes for gene: GNB1 were changed from Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42 to Intellectual developmental disorder, autosomal dominant 42, OMIM:616973; cutaneous mastocytosis, MONDO:0019023
Rare genetic inflammatory skin disorders v3.8 GNB1 Achchuthan Shanmugasundram Publications for gene: GNB1 were set to 35119134
Rare genetic inflammatory skin disorders v3.7 GNB1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GNB1.
Rare genetic inflammatory skin disorders v3.7 GNB1 Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29174093, 30194818, 35119134; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, OMIM:616973, cutaneous mastocytosis, MONDO:0019023; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v3.7 MVD Arina Puzriakova Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714 to Porokeratosis 7, multiple types, OMIM:614714
Rare genetic inflammatory skin disorders v3.6 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti; Incontinentia pigmenti, Ectodermal dysplasia to Incontinentia pigmenti, OMIM:308300
Rare genetic inflammatory skin disorders v3.5 ADAMTS2 Dmitrijs Rots reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v3.5 NLRP1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of monoallelic NLRP1 variants to this panel with green rating. However, the evidence is not sufficient enough (two unrelated cases) for biallelic variants. Hence, the MOI should be changed to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' and this gene should be recommended for upgrade to green rating in the next GMS review.
Rare genetic inflammatory skin disorders v3.5 NLRP1 Achchuthan Shanmugasundram Mode of inheritance for gene: NLRP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v3.4 NLRP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NLRP1.
Rare genetic inflammatory skin disorders v3.4 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and two unrelated cases with biallelic NLRP1 variants reported with inflammatory skin conditions. Some of these variants are reported to be gain-of-function.; to: There are five unrelated cases with monoallelic NLRP1 variants and two unrelated cases with biallelic NLRP1 variants reported with inflammatory skin conditions. Some of these variants are reported to be gain-of-function.

This gene has also been associated with relevant phenotypes in both OMIM and Gene2Phenotype.
Rare genetic inflammatory skin disorders v3.4 NLRP1 Achchuthan Shanmugasundram reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27662089, 27965258, 31873740; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, Palmoplantar carcinoma, multiple self-healing, OMIM:615225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v3.4 EGFR Arina Puzriakova Phenotypes for gene: EGFR were changed from INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481 to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Rare genetic inflammatory skin disorders v3.1 GNB1 Dmitrijs Rots gene: GNB1 was added
gene: GNB1 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 35119134
Phenotypes for gene: GNB1 were set to Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42
Mode of pathogenicity for gene: GNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB1 was set to GREEN
Added comment: 5 cases reported with cutaneous mastocytosis and a de novo missense variant (mostly recurrent). Although rare feature (to date reported ~60 cases with GNB1-related disorder), enough evidence for green rating due to mastocytosis.
Sources: Literature
Rare genetic inflammatory skin disorders v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Rare genetic inflammatory skin disorders v3.0 Sarah Leigh promoted panel to version 3.0
Rare genetic inflammatory skin disorders v2.5 LTV1 Achchuthan Shanmugasundram changed review comment from: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.

PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).

Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.

This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype.
Sources: Literature; to: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.

PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).

Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.

This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype.
Sources: Literature
Rare genetic inflammatory skin disorders v2.5 LTV1 Achchuthan Shanmugasundram Classified gene: LTV1 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v2.5 LTV1 Achchuthan Shanmugasundram Gene: ltv1 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v2.4 LTV1 Achchuthan Shanmugasundram gene: LTV1 was added
gene: LTV1 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTV1 were set to 34999892
Phenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Review for gene: LTV1 was set to AMBER
Added comment: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.

PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).

Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.

This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype.
Sources: Literature
Rare genetic inflammatory skin disorders v2.3 RNU12 Eleanor Williams Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova Tag Q4_21_expert_review was removed from gene: RNU12.
Tag Q4_21_rating was removed from gene: RNU12.
Tag Q4_21_phenotype was removed from gene: RNU12.
Rare genetic inflammatory skin disorders v2.3 GJB4 Arina Puzriakova Tag Q2_22_MOI was removed from gene: GJB4.
Rare genetic inflammatory skin disorders v2.3 GJA1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v2.3 GJB4 Arina Puzriakova commented on gene: GJB4: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v2.3 GJA1 Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v2.2 RNU12 Arina Puzriakova Source Expert Review Green was added to RNU12.
Source NHS GMS was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v2.2 GJB4 Arina Puzriakova Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v2.2 GJA1 Arina Puzriakova Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v2.1 COL5A2 Dmitrijs Rots reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL5A1 Dmitrijs Rots reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A5 Dmitrijs Rots reviewed gene: COL4A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A4 Dmitrijs Rots reviewed gene: COL4A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A3 Dmitrijs Rots reviewed gene: COL4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL3A1 Dmitrijs Rots reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL1A2 Dmitrijs Rots reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL1A1 Dmitrijs Rots reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Rare genetic inflammatory skin disorders v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Rare genetic inflammatory skin disorders v1.55 FBLN5 Arina Puzriakova Phenotypes for gene: FBLN5 were changed from to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Rare genetic inflammatory skin disorders v1.54 GJB4 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both monoallelic and biallelic' to just 'monoallelic' as the literature only reports heterozygous (monoallelic) variants associated with EKVP. Rare biallelic forms of EKVP have so far only been reported for GJB3 (OMIM:133200).
Rare genetic inflammatory skin disorders v1.54 GJB4 Arina Puzriakova Mode of inheritance for gene: GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v1.53 GJB4 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: GJB4.
Rare genetic inflammatory skin disorders v1.53 ECM1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ECM1.
Tag Q4_21_NHS_review was removed from gene: ECM1.
Rare genetic inflammatory skin disorders v1.53 ECM1 Arina Puzriakova commented on gene: ECM1
Rare genetic inflammatory skin disorders v1.52 ECM1 Arina Puzriakova Source Expert Review Green was added to ECM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v1.50 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 to Mastocytosis, cutaneous, OMIM:154800
Rare genetic inflammatory skin disorders v1.49 TMEM173 Arina Puzriakova Phenotypes for gene: TMEM173 were changed from STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934 to STING-associated vasculopathy, infantile-onset, OMIM:615934
Rare genetic inflammatory skin disorders v1.48 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from CINCA SYNDROME, OMIM:607115 to CINCA syndrome, OMIM:607115; Muckle-Wells syndrome, OMIM:191900
Rare genetic inflammatory skin disorders v1.47 IL36RN Arina Puzriakova Phenotypes for gene: IL36RN were changed from PSORIASIS 14, PUSTULAR, OMIM:614204 to Psoriasis 14, pustular, OMIM:614204
Rare genetic inflammatory skin disorders v1.46 IL1RN Arina Puzriakova Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852 to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Rare genetic inflammatory skin disorders v1.45 ECM1 Eleanor Williams Classified gene: ECM1 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v1.45 ECM1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for a GREEN rating following GMS review. More than 3 cases reported with a plausible disease causing variant in the ECM1 gene and a Lipoid proteinosis phenotype.
Rare genetic inflammatory skin disorders v1.45 ECM1 Eleanor Williams Gene: ecm1 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v1.44 ECM1 Eleanor Williams Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease to Urbach-Wiethe disease, OMIM:247100; lipoid proteinosis, MONDO:0009530
Rare genetic inflammatory skin disorders v1.43 ECM1 Eleanor Williams Publications for gene: ECM1 were set to 11929856
Rare genetic inflammatory skin disorders v1.42 ECM1 Eleanor Williams Tag Q4_21_rating tag was added to gene: ECM1.
Tag Q4_21_NHS_review tag was added to gene: ECM1.
Rare genetic inflammatory skin disorders v1.42 ECM1 Eleanor Williams reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease, OMIM:247100, lipoid proteinosis, MONDO:0009530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Tag Q4_21_phenotype tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Classified gene: RNU12 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Added comment: Comment on list classification: Promoted from red to amber. It could be promoted to green after GMS review if the working group decide that the phenotype is appropriate for this panel. However, variants in this gene would not currently be reported as it is not a protein coding gene. An Ensembl ID also needs to be added before it is promoted to green.
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Gene: rnu12 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: RNU12.
Tag Q4_21_expert_review tag was added to gene: RNU12.
Tag Q4_21_rating tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams changed review comment from: Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. I

PMID: 34085356 (Xing et al 2021) report the analysis of 5 patients from 4 unrelated families with clinical features of CDAGS (Craniosynostosis and clavicular hypoplasia; Delayed closure of the fontanelles and cranial defects (and deafness in some patients); Anal anomalies; Genitourinary malformations; and Skin eruption, including porokeratosis). WES and Sanger sequencing was used to identify rare biallelic variants in RNU12. All affected individuals were compound heterozygous, with all 5 patients sharing NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide. Each individual also carried another variant (4 different variants) in RNU12 thought to disrupt the secondary structure or the Sm binding site of the RNU12 snRNA. All 5 individuals were reported to have skin anomalies; erythematous cutaneous eruption consistent with porokeratosis (1), erythematous skin eruption involving the cheeks, arms, and legs (1), porokeratosis (2 siblings), disseminated dermatosis (1 individual)
Sources: Literature; to: Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. It encodes a small nuclear RNA.

PMID: 34085356 (Xing et al 2021) report the analysis of 5 patients from 4 unrelated families with clinical features of CDAGS (Craniosynostosis and clavicular hypoplasia; Delayed closure of the fontanelles and cranial defects (and deafness in some patients); Anal anomalies; Genitourinary malformations; and Skin eruption, including porokeratosis). WES and Sanger sequencing was used to identify rare biallelic variants in RNU12. All affected individuals were compound heterozygous, with all 5 patients sharing NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide. Each individual also carried another variant (4 different variants) in RNU12 thought to disrupt the secondary structure or the Sm binding site of the RNU12 snRNA. All 5 individuals were reported to have skin anomalies; erythematous cutaneous eruption consistent with porokeratosis (1), erythematous skin eruption involving the cheeks, arms, and legs (1), porokeratosis (2 siblings), disseminated dermatosis (1 individual)
Sources: Literature
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams gene: RNU12 was added
gene: RNU12 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to porokeratosis; erythematous cutaneous eruption
Review for gene: RNU12 was set to GREEN
Added comment: Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. I

PMID: 34085356 (Xing et al 2021) report the analysis of 5 patients from 4 unrelated families with clinical features of CDAGS (Craniosynostosis and clavicular hypoplasia; Delayed closure of the fontanelles and cranial defects (and deafness in some patients); Anal anomalies; Genitourinary malformations; and Skin eruption, including porokeratosis). WES and Sanger sequencing was used to identify rare biallelic variants in RNU12. All affected individuals were compound heterozygous, with all 5 patients sharing NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide. Each individual also carried another variant (4 different variants) in RNU12 thought to disrupt the secondary structure or the Sm binding site of the RNU12 snRNA. All 5 individuals were reported to have skin anomalies; erythematous cutaneous eruption consistent with porokeratosis (1), erythematous skin eruption involving the cheeks, arms, and legs (1), porokeratosis (2 siblings), disseminated dermatosis (1 individual)
Sources: Literature
Rare genetic inflammatory skin disorders v1.40 ECM1 Tom Cullup gene: ECM1 was added
gene: ECM1 was added to Rare genetic inflammatory skin disorders. Sources: Other
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to 11929856
Phenotypes for gene: ECM1 were set to Urbach-Wiethe disease
Penetrance for gene: ECM1 were set to Complete
Review for gene: ECM1 was set to GREEN
Added comment: Sources: Other
Rare genetic inflammatory skin disorders v1.40 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Rare genetic inflammatory skin disorders v1.39 GJA1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update.

EKVP3 (MIM: 617525) which manifests in transient erythematous patches is associated with monoallelic variants only. Biallelic variants are not pertinent to this panel.
Rare genetic inflammatory skin disorders v1.39 GJA1 Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v1.38 GJA1 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1.
Rare genetic inflammatory skin disorders v1.38 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Rare genetic inflammatory skin disorders v1.37 ABCC6 Ivone Leong Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
Rare genetic inflammatory skin disorders v1.35 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Rare genetic inflammatory skin disorders v1.33 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Rare genetic inflammatory skin disorders v1.32 SH3PXD2B Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
Rare genetic inflammatory skin disorders v1.31 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Rare genetic inflammatory skin disorders v1.30 RAG2 Ivone Leong Phenotypes for gene: RAG2 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.29 RAG1 Ivone Leong Phenotypes for gene: RAG1 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.28 PSENEN Ivone Leong Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Rare genetic inflammatory skin disorders v1.27 OSMR Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
Rare genetic inflammatory skin disorders v1.26 NSDHL Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050
Rare genetic inflammatory skin disorders v1.25 NOD2 Ivone Leong Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Rare genetic inflammatory skin disorders v1.24 NLRP3 Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
Rare genetic inflammatory skin disorders v1.23 NCSTN Ivone Leong Phenotypes for gene: NCSTN were changed from ACNINV1; ACNE INVERSA, FAMILIAL, 1 to ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Rare genetic inflammatory skin disorders v1.22 MVD Ivone Leong Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
Rare genetic inflammatory skin disorders v1.21 KIT Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Rare genetic inflammatory skin disorders v1.20 IL36RN Ivone Leong Phenotypes for gene: IL36RN were changed from PSORS14; PSORIASIS 14, PUSTULAR; Recurrent pustular psoriasis to PSORIASIS 14, PUSTULAR, OMIM:614204
Rare genetic inflammatory skin disorders v1.19 IL1RN Ivone Leong Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
Rare genetic inflammatory skin disorders v1.18 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Rare genetic inflammatory skin disorders v1.17 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Rare genetic inflammatory skin disorders v1.16 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
Rare genetic inflammatory skin disorders v1.15 FDPS Ivone Leong Phenotypes for gene: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
Rare genetic inflammatory skin disorders v1.14 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
Rare genetic inflammatory skin disorders v1.13 DOCK8 Ivone Leong Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Rare genetic inflammatory skin disorders v1.12 CARD9 Ivone Leong Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335
Rare genetic inflammatory skin disorders v1.11 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Rare genetic inflammatory skin disorders v1.10 CARD11 Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Rare genetic inflammatory skin disorders v1.7 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Rare genetic inflammatory skin disorders v1.6 Sarah Leigh Panel version has been signed off
Rare genetic inflammatory skin disorders v1.3 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Rare genetic inflammatory skin disorders v1.1 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS Cancer Germline Virtual; GMS signed-off
Rare genetic inflammatory skin disorders v1.0 Ellen McDonagh promoted panel to version 1.0
Rare genetic inflammatory skin disorders v0.23 Ellen McDonagh List of related panels changed from to R332
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Rare genetic inflammatory skin disorders v0.22 KIT Catherine Snow reviewed gene: KIT: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v0.22 NLRP3 Catherine Snow Source Expert Review Green was added to NLRP3.
Added phenotypes FCAS1; CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME for gene: NLRP3
Publications for gene NLRP3 were changed from to 11687797; 12032915
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.22 NLRP1 Catherine Snow Added phenotypes AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS for gene: NLRP1
Publications for gene NLRP1 were changed from to 27965258
Rare genetic inflammatory skin disorders v0.22 GGCX Catherine Snow Added phenotypes PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY for gene: GGCX
Publications for gene GGCX were changed from to 17110937
Rare genetic inflammatory skin disorders v0.22 EGFR Catherine Snow Source Expert Review Green was added to EGFR.
Added phenotypes NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 for gene: EGFR
Publications for gene EGFR were changed from to 24691054; 29899996; 26436111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.22 AIRE Catherine Snow Source Expert Review Green was added to AIRE.
Added phenotypes AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 for gene: AIRE
Publications for gene AIRE were changed from to 9921903; 9398839
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.22 ABCC6 Catherine Snow Added phenotypes PSEUDOXANTHOMA ELASTICUM; PXE for gene: ABCC6
Publications for gene ABCC6 were changed from to 10835642
Rare genetic inflammatory skin disorders v0.22 TREX1 Catherine Snow Added phenotypes CHBL1; AICARDI-GOUTIERES SYNDROME 1; AGS1, CHILBLAIN LUPUS 1 for gene: TREX1
Publications for gene TREX1 were changed from to 16845398; 17660818
Rare genetic inflammatory skin disorders v0.22 TMEM173 Catherine Snow Added phenotypes STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI for gene: TMEM173
Publications for gene TMEM173 were changed from to 25029335
Rare genetic inflammatory skin disorders v0.22 STAT3 Catherine Snow Added phenotypes ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT for gene: STAT3
Publications for gene STAT3 were changed from to 17676033; 25038750
Rare genetic inflammatory skin disorders v0.22 SLC39A4 Catherine Snow Added phenotypes ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ for gene: SLC39A4
Publications for gene SLC39A4 were changed from to 12068297
Rare genetic inflammatory skin disorders v0.22 SH3PXD2B Catherine Snow Added phenotypes FTHS; FRANK-TER HAAR SYNDROME for gene: SH3PXD2B
Publications for gene SH3PXD2B were changed from to 20137777
Rare genetic inflammatory skin disorders v0.22 SAMHD1 Catherine Snow Added phenotypes AICARDI-GOUTIERES SYNDROME 5; AGS5, CHILBLAIN LUPUS 2; CHBL2 for gene: SAMHD1
Publications for gene SAMHD1 were changed from to 21204240; 19525956
Rare genetic inflammatory skin disorders v0.22 RAG2 Catherine Snow Added phenotypes OMENN SYNDROME for gene: RAG2
Publications for gene RAG2 were changed from to 9630231
Rare genetic inflammatory skin disorders v0.22 RAG1 Catherine Snow Added phenotypes OMENN SYNDROME for gene: RAG1
Publications for gene RAG1 were changed from to 9630231
Rare genetic inflammatory skin disorders v0.22 PSENEN Catherine Snow Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN
Rare genetic inflammatory skin disorders v0.22 PSEN1 Catherine Snow Source Expert Review Amber was added to PSEN1.
Added phenotypes ACNE INVERSA, FAMILIAL, 3; ACNINV3 for gene: PSEN1
Publications for gene PSEN1 were changed from to 20929727
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 OSMR Catherine Snow Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR
Publications for gene OSMR were changed from to 18179886
Rare genetic inflammatory skin disorders v0.22 NSDHL Catherine Snow Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS for gene: NSDHL
Publications for gene NSDHL were changed from to 10710235
Rare genetic inflammatory skin disorders v0.22 NOD2 Catherine Snow Added phenotypes BLAUS; BLAU SYNDROME for gene: NOD2
Publications for gene NOD2 were changed from to 11528384
Rare genetic inflammatory skin disorders v0.22 NCSTN Catherine Snow Added phenotypes ACNINV1; ACNE INVERSA, FAMILIAL, 1 for gene: NCSTN
Publications for gene NCSTN were changed from to 20929727
Rare genetic inflammatory skin disorders v0.22 MVD Catherine Snow Added phenotypes POROKERATOSIS 7, MULTIPLE TYPES; POROK7 for gene: MVD
Publications for gene MVD were changed from to 26202976
Rare genetic inflammatory skin disorders v0.22 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Added phenotypes Ichythosis with confetti; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT10
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 KRT1 Catherine Snow Source Expert Review Amber was added to KRT1.
Added phenotypes Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 KIT Catherine Snow Added phenotypes MASTOCYTOSIS, CUTANEOUS; MASTC for gene: KIT
Publications for gene KIT were changed from to 9990072
Rare genetic inflammatory skin disorders v0.22 IL36RN Catherine Snow Added phenotypes PSORIASIS 14, PUSTULAR; PSORS14 for gene: IL36RN
Publications for gene IL36RN were changed from to 22903787
Rare genetic inflammatory skin disorders v0.22 IL1RN Catherine Snow Added phenotypes OMPP; OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS for gene: IL1RN
Publications for gene IL1RN were changed from to 19494218
Rare genetic inflammatory skin disorders v0.22 IKBKG Catherine Snow Source Expert Review Amber was added to IKBKG.
Added phenotypes Incontinentia pigmenti for gene: IKBKG
Publications for gene IKBKG were changed from to 10839543
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 GJB4 Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 2 for gene: GJB4
Publications for gene GJB4 were changed from to 12648223
Rare genetic inflammatory skin disorders v0.22 GJB3 Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 1 for gene: GJB3
Publications for gene GJB3 were changed from to 10798362
Rare genetic inflammatory skin disorders v0.22 GJA1 Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 for gene: GJA1
Publications for gene GJA1 were changed from to 25398053
Rare genetic inflammatory skin disorders v0.22 FLG Catherine Snow Source Expert Review Amber was added to FLG.
Added phenotypes Eczema; Ichthyosis vulgaris 146700; Ichthyosis vulgaris for gene: FLG
Publications for gene FLG were changed from 16444271; 16815158; 17030239; 17291859 to 16550169
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 FDPS Catherine Snow Added phenotypes POROKERATOSIS 9, MULTIPLE TYPES for gene: FDPS
Publications for gene FDPS were changed from to 26202976
Rare genetic inflammatory skin disorders v0.22 EDA Catherine Snow Source Expert Review Red was added to EDA.
Added phenotypes ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED for gene: EDA
Publications for gene EDA were changed from to 9683615
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rare genetic inflammatory skin disorders v0.22 DOCK8 Catherine Snow Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive for gene: DOCK8
Publications for gene DOCK8 were changed from to 19776401
Rare genetic inflammatory skin disorders v0.22 DCLRE1C Catherine Snow Source Expert Review Amber was added to DCLRE1C.
Added phenotypes Omenn syndrome for gene: DCLRE1C
Publications for gene DCLRE1C were changed from to 15731174
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 CYBB Catherine Snow Source Expert Review Amber was added to CYBB.
Added phenotypes Chillblain lupus; Discoid lupus erythematosus for gene: CYBB
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 CSTA Catherine Snow Source Expert Review Amber was added to CSTA.
Added phenotypes susceptibility to psoriasis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptility to atopic dermatitis for gene: CSTA
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 CARD9 Catherine Snow Added phenotypes Deep dermatophytosis for gene: CARD9
Rare genetic inflammatory skin disorders v0.22 CARD14 Catherine Snow Added phenotypes Pityriasis rubra pilaris; susceptibility to psoriasis for gene: CARD14
Publications for gene CARD14 were changed from to 22703878; 22521418
Rare genetic inflammatory skin disorders v0.22 CARD11 Catherine Snow Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11
Publications for gene CARD11 were changed from to 28628108
Rare genetic inflammatory skin disorders v0.22 ADA2 Catherine Snow Added phenotypes VAIHS (Polyarteritis nodosa); VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME for gene: ADA2
Publications for gene ADA2 were changed from to 24552284
Rare genetic inflammatory skin disorders v0.21 NLRP3 Tom Cullup reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11687797, 12032915; Phenotypes: CINCA SYNDROME, CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, FCAS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.21 NLRP1 Tom Cullup reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27965258; Phenotypes: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS, AIADK; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 GGCX Tom Cullup reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: 17110937; Phenotypes: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 EGFR Tom Cullup reviewed gene: EGFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 24691054, 29899996, 26436111; Phenotypes: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NISBD2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 AIRE Tom Cullup reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 9921903; Phenotypes: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, APS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 ABCC6 Tom Cullup reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: 10835642; Phenotypes: PSEUDOXANTHOMA ELASTICUM, PXE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 TREX1 Tom Cullup reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845398, 17660818; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, AGS1, CHILBLAIN LUPUS 1, CHBL1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 TMEM173 Tom Cullup reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: 25029335; Phenotypes: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SAVI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 STAT3 Tom Cullup reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676033, 25038750; Phenotypes: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT, HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, ADMIO1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 SLC39A4 Tom Cullup reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12068297; Phenotypes: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE, AEZ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 SH3PXD2B Tom Cullup reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777; Phenotypes: FRANK-TER HAAR SYNDROME, FTHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 SAMHD1 Tom Cullup reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525956, 21204240; Phenotypes: AICARDI-GOUTIERES SYNDROME 5, AGS5, CHILBLAIN LUPUS 2, CHBL2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 RAG2 Tom Cullup reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9630231; Phenotypes: OMENN SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 RAG1 Tom Cullup reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9630231; Phenotypes: OMENN SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 PSEN1 Tom Cullup reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 3, ACNINV3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.21 OSMR Tom Cullup reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179886; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, PLCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 NSDHL Tom Cullup reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10710235; Phenotypes: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare genetic inflammatory skin disorders v0.21 NOD2 Tom Cullup reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528384; Phenotypes: BLAU SYNDROME, BLAUS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 NCSTN Tom Cullup reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 1, ACNINV1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.21 MVD Tom Cullup reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: 26202976; Phenotypes: POROKERATOSIS 7, MULTIPLE TYPES, POROK7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.21 KRT10 Tom Cullup reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 KRT1 Tom Cullup reviewed gene: KRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 KIT Tom Cullup reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9990072; Phenotypes: MASTOCYTOSIS, CUTANEOUS, MASTC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 IL36RN Tom Cullup reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: 22903787; Phenotypes: PSORIASIS 14, PUSTULAR, PSORS14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 IL1RN Tom Cullup reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: 19494218; Phenotypes: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMPP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 IKBKG Tom Cullup reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: 10839543; Phenotypes: Incontinentia pigmenti; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.21 GJB4 Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: Erythrokeratodermia variabilis et progressiva 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 GJB3 Tom Cullup reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10798362; Phenotypes: Erythrokeratodermia variabilis et progressiva 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 GJA1 Tom Cullup reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, EKVP3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 FLG Tom Cullup reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 16550169; Phenotypes: Ichthyosis vulgaris, Eczema, Ichthyosis vulgaris 146700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 FDPS Tom Cullup reviewed gene: FDPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26202976; Phenotypes: POROKERATOSIS 9, MULTIPLE TYPES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.21 EDA Tom Cullup reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 9683615; Phenotypes: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.21 DOCK8 Tom Cullup reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19776401; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 DCLRE1C Tom Cullup reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: ; Publications: 15731174; Phenotypes: Omenn syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 CYBB Tom Cullup reviewed gene: CYBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Chillblain lupus, Discoid lupus erythematosus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.21 CSTA Tom Cullup reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptility to atopic dermatitis, Exfoliative ichthyosis/acral peeling skin syndrome, susceptibility to psoriasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 CARD9 Tom Cullup reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 24131138; Phenotypes: Deep dermatophytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.21 CARD14 Tom Cullup reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521418, 22703878; Phenotypes: susceptibility to psoriasis, Pityriasis rubra pilaris; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 CARD11 Tom Cullup reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28628108; Phenotypes: Immunodeficiency 11B with atopic dermatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 ADA2 Tom Cullup reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, VAIHS (Polyarteritis nodosa); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.20 PSENEN Catherine Snow Classified gene: PSENEN as Green List (high evidence)
Rare genetic inflammatory skin disorders v0.20 PSENEN Catherine Snow Gene: psenen has been classified as Green List (High Evidence).
Rare genetic inflammatory skin disorders v0.19 PSENEN Catherine Snow gene: PSENEN was added
gene: PSENEN was added to Rare genetic inflammatory skin disorders. Sources: Expert list
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSENEN were set to 20929727
Phenotypes for gene: PSENEN were set to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2
Review for gene: PSENEN was set to GREEN
Added comment: PSENEN added to panel following advice from Tom Cullup @ GOSH
Sources: Expert list
Rare genetic inflammatory skin disorders v0.18 PSEN1 Catherine Snow Source Expert Review Green was added to PSEN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 NCSTN Catherine Snow Source Expert Review Green was added to NCSTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 CARD11 Catherine Snow Source Expert Review Green was added to CARD11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 MVD Catherine Snow Source Expert Review Green was added to MVD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 FDPS Catherine Snow Source Expert Review Green was added to FDPS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.17 PSEN1 Catherine Snow reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 NCSTN Catherine Snow reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 CARD11 Catherine Snow reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 MVD Catherine Snow reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 FDPS Catherine Snow reviewed gene: FDPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.16 PSEN1 Catherine Snow gene: PSEN1 was added
gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 NCSTN Catherine Snow gene: NCSTN was added
gene: NCSTN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 CARD11 Catherine Snow gene: CARD11 was added
gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.16 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 FDPS Catherine Snow gene: FDPS was added
gene: FDPS was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.15 CARD9 Catherine Snow Mode of inheritance for gene: CARD9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.14 NLRP1 Catherine Snow reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 NLRP3 Catherine Snow reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 LYST Catherine Snow reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 GGCX Catherine Snow reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ABCC6 Catherine Snow reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 GALNT3 Catherine Snow reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FOXC2 Catherine Snow reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FMO3 Catherine Snow reviewed gene: FMO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FLT4 Catherine Snow reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FGF23 Catherine Snow reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FBLN5 Catherine Snow reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 EFEMP2 Catherine Snow reviewed gene: EFEMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ELN Catherine Snow reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 EGFR Catherine Snow reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL5A2 Catherine Snow reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL5A1 Catherine Snow reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A5 Catherine Snow reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A4 Catherine Snow reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A3 Catherine Snow reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL3A1 Catherine Snow reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL1A2 Catherine Snow reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL1A1 Catherine Snow reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP7B Catherine Snow reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP7A Catherine Snow reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP6V0A2 Catherine Snow reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ANTXR2 Catherine Snow reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 AIRE Catherine Snow reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 AGPAT2 Catherine Snow reviewed gene: AGPAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ADAMTS2 Catherine Snow reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.13 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Rare genetic inflammatory skin disorders v0.13 TMEM173 Louise Daugherty commented on gene: TMEM173
Rare genetic inflammatory skin disorders v0.13 NLRP1 Catherine Snow gene: NLRP1 was added
gene: NLRP1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 NLRP3 Catherine Snow gene: NLRP3 was added
gene: NLRP3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 LYST Catherine Snow gene: LYST was added
gene: LYST was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GGCX Catherine Snow gene: GGCX was added
gene: GGCX was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ABCC6 Catherine Snow gene: ABCC6 was added
gene: ABCC6 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GALNT3 Catherine Snow gene: GALNT3 was added
gene: GALNT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FOXC2 Catherine Snow gene: FOXC2 was added
gene: FOXC2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FMO3 Catherine Snow gene: FMO3 was added
gene: FMO3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FLT4 Catherine Snow gene: FLT4 was added
gene: FLT4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FGF23 Catherine Snow gene: FGF23 was added
gene: FGF23 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FBLN5 Catherine Snow gene: FBLN5 was added
gene: FBLN5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 EFEMP2 Catherine Snow gene: EFEMP2 was added
gene: EFEMP2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ELN Catherine Snow gene: ELN was added
gene: ELN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL5A2 Catherine Snow gene: COL5A2 was added
gene: COL5A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL5A1 Catherine Snow gene: COL5A1 was added
gene: COL5A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL4A5 Catherine Snow gene: COL4A5 was added
gene: COL4A5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare genetic inflammatory skin disorders v0.13 COL4A4 Catherine Snow gene: COL4A4 was added
gene: COL4A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL4A3 Catherine Snow gene: COL4A3 was added
gene: COL4A3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL3A1 Catherine Snow gene: COL3A1 was added
gene: COL3A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A2 Catherine Snow gene: COL1A2 was added
gene: COL1A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A1 Catherine Snow gene: COL1A1 was added
gene: COL1A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 ATP7B Catherine Snow gene: ATP7B was added
gene: ATP7B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ATP7A Catherine Snow gene: ATP7A was added
gene: ATP7A was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.13 ATP6V0A2 Catherine Snow gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ANTXR2 Catherine Snow gene: ANTXR2 was added
gene: ANTXR2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AIRE Catherine Snow gene: AIRE was added
gene: AIRE was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AGPAT2 Catherine Snow gene: AGPAT2 was added
gene: AGPAT2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ADAMTS2 Catherine Snow gene: ADAMTS2 was added
gene: ADAMTS2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.10 FLG Ellen McDonagh Added comment: Comment on publications: PMID: 17291859 - report a truncating variant and indel identified in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
Rare genetic inflammatory skin disorders v0.10 FLG Ellen McDonagh Publications for gene: FLG were set to 16444271; 16815158; 17030239
Rare genetic inflammatory skin disorders v0.9 FLG Ellen McDonagh Publications for gene: FLG were set to 16444271; 16815158
Rare genetic inflammatory skin disorders v0.8 FLG Ellen McDonagh Added comment: Comment on publications: PMID: association of loss-of-function variants in thie gene and susceptibility to extrinsic atopic dermatitis, allergic sensitization, total IgE level, asthma, and palmar hyperlinearity.
Rare genetic inflammatory skin disorders v0.8 FLG Ellen McDonagh Publications for gene: FLG were set to 16444271
Rare genetic inflammatory skin disorders v0.7 FLG Ellen McDonagh edited their review of gene: FLG: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.7 FLG Ellen McDonagh Phenotypes for gene: FLG were changed from Ichthyosis vulgaris; Eczema to Ichthyosis vulgaris; Eczema; Ichthyosis vulgaris 146700
Rare genetic inflammatory skin disorders v0.6 FLG Ellen McDonagh Added comment: Comment on publications: PMID: 16444271 - reports 7 unrelated families and 8 sporadic cases with Ichthyosis vulgaris who were homozygous for a stop codon (rs61816761), or compound heterozygous for this variant and a frameshift variant (rs558269137).
Rare genetic inflammatory skin disorders v0.6 FLG Ellen McDonagh Publications for gene: FLG were set to
Rare genetic inflammatory skin disorders v0.5 XYLT2 Rebecca Foulger Source London North GLH was added to XYLT2.
Rare genetic inflammatory skin disorders v0.5 AGPS Rebecca Foulger Source London North GLH was added to AGPS.
Rare genetic inflammatory skin disorders v0.5 TREX1 Rebecca Foulger Source London North GLH was added to TREX1.
Rare genetic inflammatory skin disorders v0.5 TMEM173 Rebecca Foulger Source London North GLH was added to TMEM173.
Rare genetic inflammatory skin disorders v0.5 STAT3 Rebecca Foulger Source London North GLH was added to STAT3.
Rare genetic inflammatory skin disorders v0.5 SLC39A4 Rebecca Foulger Source London North GLH was added to SLC39A4.
Rare genetic inflammatory skin disorders v0.5 SH3PXD2B Rebecca Foulger Source London North GLH was added to SH3PXD2B.
Rare genetic inflammatory skin disorders v0.5 SAMHD1 Rebecca Foulger Source London North GLH was added to SAMHD1.
Rare genetic inflammatory skin disorders v0.5 RAG2 Rebecca Foulger Source London North GLH was added to RAG2.
Rare genetic inflammatory skin disorders v0.5 RAG1 Rebecca Foulger Source London North GLH was added to RAG1.
Rare genetic inflammatory skin disorders v0.5 OSMR Rebecca Foulger Source London North GLH was added to OSMR.
Rare genetic inflammatory skin disorders v0.5 NSDHL Rebecca Foulger Source London North GLH was added to NSDHL.
Rare genetic inflammatory skin disorders v0.5 NOD2 Rebecca Foulger Source London North GLH was added to NOD2.
Rare genetic inflammatory skin disorders v0.5 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Rare genetic inflammatory skin disorders v0.5 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Rare genetic inflammatory skin disorders v0.5 KIT Rebecca Foulger Source London North GLH was added to KIT.
Rare genetic inflammatory skin disorders v0.5 IL36RN Rebecca Foulger Source London North GLH was added to IL36RN.
Rare genetic inflammatory skin disorders v0.5 IL1RN Rebecca Foulger Source London North GLH was added to IL1RN.
Rare genetic inflammatory skin disorders v0.5 IKBKG Rebecca Foulger Source London North GLH was added to IKBKG.
Rare genetic inflammatory skin disorders v0.5 GJB4 Rebecca Foulger Source London North GLH was added to GJB4.
Rare genetic inflammatory skin disorders v0.5 GJB3 Rebecca Foulger Source London North GLH was added to GJB3.
Rare genetic inflammatory skin disorders v0.5 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Rare genetic inflammatory skin disorders v0.5 FLG Rebecca Foulger Source London North GLH was added to FLG.
Rare genetic inflammatory skin disorders v0.5 EDA Rebecca Foulger Source London North GLH was added to EDA.
Rare genetic inflammatory skin disorders v0.5 DOCK8 Rebecca Foulger Source London North GLH was added to DOCK8.
Rare genetic inflammatory skin disorders v0.5 DCLRE1C Rebecca Foulger Source London North GLH was added to DCLRE1C.
Rare genetic inflammatory skin disorders v0.5 CYBB Rebecca Foulger Source London North GLH was added to CYBB.
Rare genetic inflammatory skin disorders v0.5 CSTA Rebecca Foulger Source London North GLH was added to CSTA.
Rare genetic inflammatory skin disorders v0.5 CARD9 Rebecca Foulger Source London North GLH was added to CARD9.
Rare genetic inflammatory skin disorders v0.5 CARD14 Rebecca Foulger Source London North GLH was added to CARD14.
Rare genetic inflammatory skin disorders v0.5 ADA2 Rebecca Foulger Source London North GLH was added to ADA2.
Rare genetic inflammatory skin disorders v0.4 XYLT2 Rebecca Foulger reviewed gene: XYLT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 TREX1 Rebecca Foulger reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 TMEM173 Rebecca Foulger reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 STAT3 Rebecca Foulger reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 SLC39A4 Rebecca Foulger reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 SH3PXD2B Rebecca Foulger reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 SAMHD1 Rebecca Foulger reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 RAG2 Rebecca Foulger reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 RAG1 Rebecca Foulger reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 OSMR Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 NOD2 Rebecca Foulger reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 KIT Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IL36RN Rebecca Foulger reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IL1RN Rebecca Foulger reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJB4 Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 FLG Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 EDA Rebecca Foulger reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 DOCK8 Rebecca Foulger reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 DCLRE1C Rebecca Foulger reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CYBB Rebecca Foulger reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 ADA2 Rebecca Foulger reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CARD9 Rebecca Foulger reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CARD14 Rebecca Foulger reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.3 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: XYLT2 was set to
Phenotypes for gene: XYLT2 were set to Scleroderma
Rare genetic inflammatory skin disorders v0.3 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome; Chillblain lupus
Rare genetic inflammatory skin disorders v0.3 TMEM173 Rebecca Foulger gene: TMEM173 was added
gene: TMEM173 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy
Rare genetic inflammatory skin disorders v0.3 STAT3 Rebecca Foulger gene: STAT3 was added
gene: STAT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT3 were set to HyperIgE syndrome
Rare genetic inflammatory skin disorders v0.3 SLC39A4 Rebecca Foulger gene: SLC39A4 was added
gene: SLC39A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Rare genetic inflammatory skin disorders v0.3 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Borrone dermato-cardio-skeletal syndrome
Rare genetic inflammatory skin disorders v0.3 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SAMHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome; Chillblain lupus
Rare genetic inflammatory skin disorders v0.3 RAG2 Rebecca Foulger gene: RAG2 was added
gene: RAG2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 RAG1 Rebecca Foulger gene: RAG1 was added
gene: RAG1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 OSMR Rebecca Foulger gene: OSMR was added
gene: OSMR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis cutis
Rare genetic inflammatory skin disorders v0.3 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Rare genetic inflammatory skin disorders. 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
Rare genetic inflammatory skin disorders v0.3 NOD2 Rebecca Foulger gene: NOD2 was added
gene: NOD2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome
Rare genetic inflammatory skin disorders v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Rare genetic inflammatory skin disorders. 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 Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Rare genetic inflammatory skin disorders v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Rare genetic inflammatory skin disorders. 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 Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix
Rare genetic inflammatory skin disorders v0.3 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism
Rare genetic inflammatory skin disorders v0.3 IL36RN Rebecca Foulger gene: IL36RN was added
gene: IL36RN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL36RN were set to Recurrent pustular psoriasis
Rare genetic inflammatory skin disorders v0.3 IL1RN Rebecca Foulger gene: IL1RN was added
gene: IL1RN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Recurrent pustular psoriasis
Rare genetic inflammatory skin disorders v0.3 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, Ectodermal dysplasia
Rare genetic inflammatory skin disorders v0.3 GJB4 Rebecca Foulger gene: GJB4 was added
gene: GJB4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis
Rare genetic inflammatory skin disorders v0.3 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis
Rare genetic inflammatory skin disorders v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
Rare genetic inflammatory skin disorders v0.3 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to Rare genetic inflammatory skin disorders. 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; Eczema
Rare genetic inflammatory skin disorders v0.3 EDA Rebecca Foulger gene: EDA was added
gene: EDA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Rare genetic inflammatory skin disorders v0.3 DOCK8 Rebecca Foulger gene: DOCK8 was added
gene: DOCK8 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive
Rare genetic inflammatory skin disorders v0.3 DCLRE1C Rebecca Foulger gene: DCLRE1C was added
gene: DCLRE1C was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 CYBB Rebecca Foulger gene: CYBB was added
gene: CYBB was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chillblain lupus; Discoid lupus erythematosus
Rare genetic inflammatory skin disorders v0.3 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to Rare genetic inflammatory skin disorders. 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 susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptibility to psoriasis
Rare genetic inflammatory skin disorders v0.3 ADA2 Rebecca Foulger gene: ADA2 was added
gene: ADA2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa
Rare genetic inflammatory skin disorders v0.3 CARD9 Rebecca Foulger gene: CARD9 was added
gene: CARD9 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARD9 was set to
Publications for gene: CARD9 were set to 24131138
Phenotypes for gene: CARD9 were set to Deep dermatophytosis
Rare genetic inflammatory skin disorders v0.3 CARD14 Rebecca Foulger gene: CARD14 was added
gene: CARD14 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to susceptibility to psoriasis; Pityriasis rubra pilaris
Rare genetic inflammatory skin disorders v0.3 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: AGPS was set to
Phenotypes for gene: AGPS were set to Photoallergic dermatitis
Rare genetic inflammatory skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Rare genetic inflammatory skin disorders v0.0 Ellen McDonagh Added Panel Rare genetic inflammatory skin disorders
Set panel types to: GMS Rare Disease