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07 Nov 2025	Palmoplantar keratodermas v4.8	NECTIN4	Ida Ertmanska commented on gene: NECTIN4: Comment on list classification: Ectodermal dysplasia-syndactyly syndrome 1 has a variable presentation, mostly commonly including hair and dental abnormalities, as well as cutaneous syndactyly. There are at least 26 individuals from 3 unrelated families described in literature with biallelic NECTIN4 variants and palmoplantar keratoderma (PMIDs: 21346770, 34067522, 37183149). Based on the available evidence, NECTIN4 should be rated Green for Palmoplantar keratodermas.
07 Nov 2025	Palmoplantar keratodermas v4.8	NECTIN4	Ida Ertmanska Classified gene: NECTIN4 as Amber List (moderate evidence)
07 Nov 2025	Palmoplantar keratodermas v4.8	NECTIN4	Ida Ertmanska Gene: nectin4 has been classified as Amber List (Moderate Evidence).
07 Nov 2025	Palmoplantar keratodermas v4.7	NECTIN4	Ida Ertmanska gene: NECTIN4 was added gene: NECTIN4 was added to Palmoplantar keratodermas. Sources: Other Q4_25_promote_green tags were added to gene: NECTIN4. Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN4 were set to 20691405; 21346770; 34067522; 37183149; 37829154 Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573; ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565 Review for gene: NECTIN4 was set to GREEN Added comment: PMID: 20691405 Brancati et al. 2010 Family A - 4 affected siblings, Algerian origins, first-cousin parents; c.851G>A (p.Arg284Gln), homozygous; phenotype: progressive alopecia, pili torti, widely-spaced peg-shaped teeth, syndactyly fingers 2-3/3-4, toes 2-3/4-5. Study shows that the variants results in exon 4 skipping, leading to a p.(Phe244CysfsX22) change (premature stop codon). Family B - 2 sibs born to nonconsanguineous Italian parents; phenotype: alopecia, pili torti, abnormal teeth, cutaneous syndactyly. Compound heterozygous c.554C>T (p.Thr185Met) + c.906delT (p.Pro304HisfsX2). 50% reduced mRNA expression in cultured epidermal keratinocytes of patient II:1 (family B). PMID: 21346770, Jelani et al. 2011 10 affected individuals across a consanguineous Pakistani pedigree. Used microsatellite markers to assign disease locus. Affected individuals homozygous for c.635C>G; p.Pro212Arg - LOD score 5.05. Phenotype: sparse hair, conical teeth with enamel hypoplasia, nail dystrophy, palmoplantar keratoderma, bilateral syndactyly fingers 3-4 and toes 2-3. PMID: 34067522 Rotunno et al., 2021 Reports 5yo female patient; c.1150delC (p.Gln384ArgfsTer7), homozygous; phenotype: Brittle hair, sparse eyebrows/eyelashes, toenail dystrophy, mild palmoplantar keratoderma. Her teeth were widely spaced and conical, with small crowns and enamel hypoplasia + agenesis of 4 wisdom teeth. PMID: 37829154 Ali et al., 2023 Consanguineous Kashmiri Family. All 4 affected individuals harboured a homozygous nonsense variant NM 030916: c.181C > T, p.(Gln61Ter). Method: WES. Hypotrichosis, syndactyly fingers 3-4 and toes 2-3, discolored nails, upper lip cleft; conical teeth, with enamel ridges, and pits, widely spaced. PMID: 37183149 Hajra et al., 2023 Large consanguineous Pakistani family. Only NECTIN4 coding region sequenced. All 15 affected individuals were homozygous for c.163C>T; p.(Arg55*). Phenotype: sparse hair; hypoplastic nails with thick flat discoloured nail plates; peg-shaped, conical, and widely spaced teeth with enamel hypoplasia; proximal cutaneous syndactyly of fingers and toes; skin was dry and scaly with hyperkeratosis and palmoplantar keratoderma. NECTIN4, previously known as PVRL4, is linked to Ectodermal dysplasia-syndactyly syndrome 1, 613573 (OMIM, accessed 7th Nov 2025). Sources: Other
20 Oct 2025	Palmoplantar keratodermas v4.6	AP1B1	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: AP1B1.
20 Oct 2025	Palmoplantar keratodermas v4.6	AP1B1	Achchuthan Shanmugasundram Classified gene: AP1B1 as Amber List (moderate evidence)
20 Oct 2025	Palmoplantar keratodermas v4.6	AP1B1	Achchuthan Shanmugasundram Gene: ap1b1 has been classified as Amber List (Moderate Evidence).
20 Oct 2025	Palmoplantar keratodermas v4.5	AP1B1	Achchuthan Shanmugasundram Phenotypes for gene: AP1B1 were changed from to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781
20 Oct 2025	Palmoplantar keratodermas v4.4	AP1B1	Achchuthan Shanmugasundram Publications for gene: AP1B1 were set to
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska commented on gene: AP1B1: Comment on list classification: At least 6 unrelated individuals harbouring biallelic variants in AP1B1, diagnosed with Keratitis-ichthyosis-deafness syndrome, presented with syndromic palmoplantar hyperkeratosis. Based on the available evidence, this gene should be rated Green for Palmoplantar hyperkeratosis.
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska changed review comment from: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 31630788 Boyden et al., 2019 Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, erythroderma, palmoplantar keratoderma, hearing loss, ichthyosis. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature; to: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 31630788 Boyden et al., 2019 Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, palmoplantar keratoderma, moderate motor & mental retardation, failed the auditory brainstem response test bilaterally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, erythroderma, palmoplantar keratoderma, hearing loss, ichthyosis. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska changed review comment from: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 31630788 Boyden et al., 2019 Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature; to: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 31630788 Boyden et al., 2019 Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, erythroderma, palmoplantar keratoderma, hearing loss, ichthyosis. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska edited their review of gene: AP1B1: Changed publications to: 31630791, 31630788, 33452671, 33349978, 32969855, 35144013
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska changed review comment from: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature; to: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 31630788 Boyden et al., 2019 Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska edited their review of gene: AP1B1: Changed publications to: 31630791, 33452671, 33349978, 32969855, 35144013; Changed phenotypes to: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150, KID syndrome, MONDO:0018781
17 Oct 2025	Palmoplantar keratodermas v4.3	AP1B1	Ida Ertmanska gene: AP1B1 was added gene: AP1B1 was added to Palmoplantar keratodermas. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: AP1B1 was set to GREEN Added comment: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618 and 2677C>T p.Gln893. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). Sources: Literature
19 Sep 2025	Palmoplantar keratodermas v4.3	FLG	Arina Puzriakova Phenotypes for gene: FLG were changed from ICHTHYOSIS VULGARIS to Ichthyosis vulgaris, OMIM:146700; Dermatitis, atopic, susceptibility to, 2, OMIM:605803; hereditary palmoplantar keratoderma, MONDO:0019272
19 Sep 2025	Palmoplantar keratodermas v4.2	FLG	Arina Puzriakova Publications for gene: FLG were set to 16444271; 16815158; 17030239; 17291859
19 Sep 2025	Palmoplantar keratodermas v4.1	FLG	Arina Puzriakova Tag Q3_25_MOI tag was added to gene: FLG.
18 Sep 2025	Palmoplantar keratodermas v4.1	FLG	Ida Ertmanska changed review comment from: Comment on list classification: There are at least 17 unrelated patients with variants in FLG with palmoplantar keratoderma (PPK). PPK is frequently seen in combination with ichthyosis. PMID:36308042 (Clabbers et al., 2022): 22 Dutch patients with palmoplantar keratoderma were found to carry mono- or bi-allelic variants in FLG. In 17/22 of the patients, variants in other known PPK genes were excluded through an exome sequencing panel. Ten patients were heterozygous, six homozygous, and six compound heterozygous, including nonsense and frameshift mutations. Phenotypes: diffuse PPK (100% of patients), palmoplantar erythema (82%), palmar hyperlinearity (91%), transgrediens (62%), and generalized xerosis cutis (100%). Functional studies: Newborn Flg(-/-) mice exhibit dry scaly skin. The keratin patterns were lost, and the stratum corneum was fragile, leading to altered skin barrier integrity (PMID: 22409988 Kawasaki et al., 2012).; to: Comment on list classification: There are at least 17 unrelated patients with variants in FLG with palmoplantar keratoderma (PPK). PPK is frequently seen in combination with ichthyosis. PMID:36308042 (Clabbers et al., 2022): 22 Dutch patients with palmoplantar keratoderma were found to carry mono- or bi-allelic variants in FLG. In 17/22 of the patients, variants in other known PPK genes were excluded through an exome sequencing panel. Ten patients were heterozygous, six homozygous, and six compound heterozygous, including nonsense and frameshift mutations. Phenotypes: diffuse PPK (100% of patients), palmoplantar erythema (82%), palmar hyperlinearity (91%), transgrediens (62%), and generalized xerosis cutis (100%). Functional studies: Newborn Flg(-/-) mice exhibit dry scaly skin. The keratin patterns were lost, and the stratum corneum was fragile, leading to altered skin barrier integrity (PMID: 22409988 Kawasaki et al., 2012). Based on the available evidence, this gene should be rated Green for Palmoplantar keratodermas.
18 Sep 2025	Palmoplantar keratodermas 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'. 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). Both monoallelic and biallelic variants in FLG may cause palmoplantar keratoderma - PPK is frequently seen in combination with ichthyosis (PMID:36308042 Clabbers et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).; Changed publications to: 16444271, 16550169, 22409988, 36308042
18 Sep 2025	Palmoplantar keratodermas v4.1	FLG	Ida Ertmanska reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22409988, 36308042; Phenotypes: Ichthyosis vulgaris, OMIM:146700, Dermatitis, atopic, susceptibility to, 2, OMIM: 605803, hereditary palmoplantar keratoderma, MONDO:0019272; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
30 Apr 2025	Palmoplantar keratodermas v4.1		Eleanor Williams Panel version 4.0 has been signed off on 2025-04-30
30 Apr 2025	Palmoplantar keratodermas v4.0		Eleanor Williams promoted panel to version 4.0
02 Apr 2025	Palmoplantar keratodermas v3.27	POMP	Arina Puzriakova Deleted their comment
06 Dec 2024	Palmoplantar keratodermas v3.27	TGM5	Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TGM5. Tag Q4_23_NHS_review was removed from gene: TGM5.
06 Dec 2024	Palmoplantar keratodermas v3.27	SERPINB8	Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SERPINB8. Tag Q4_23_NHS_review was removed from gene: SERPINB8.
06 Dec 2024	Palmoplantar keratodermas v3.27	PEX7	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: PEX7.
06 Dec 2024	Palmoplantar keratodermas v3.27	PERP	Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: PERP.
06 Dec 2024	Palmoplantar keratodermas v3.27	JUP	Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: JUP.
06 Dec 2024	Palmoplantar keratodermas v3.27	FLG2	Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: FLG2. Tag Q4_23_NHS_review was removed from gene: FLG2.
06 Dec 2024	Palmoplantar keratodermas v3.27	SLC27A4	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: SLC27A4. Tag Q1_24_expert_review was removed from gene: SLC27A4.
06 Dec 2024	Palmoplantar keratodermas v3.27	POMP	Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. The GMS reviewers note that R165 proposal for this gene is to change to green and R165/166 are often requested together, so it is contradictory to have green/red in these panels.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. The GMS reviewers note that R165 proposal for this gene is to change to green and R165/166 are often requested together, so it is contradictory to have green/red in these panels.
06 Dec 2024	Palmoplantar keratodermas v3.27	POMP	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: POMP. Tag Q1_24_expert_review was removed from gene: POMP.
06 Dec 2024	Palmoplantar keratodermas v3.27	PHYH	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: PHYH. Tag Q1_24_expert_review was removed from gene: PHYH.
06 Dec 2024	Palmoplantar keratodermas v3.27	MVK	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: MVK. Tag Q1_24_expert_review was removed from gene: MVK.
06 Dec 2024	Palmoplantar keratodermas v3.27	CLDN1	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: CLDN1. Tag Q1_24_expert_review was removed from gene: CLDN1.
06 Dec 2024	Palmoplantar keratodermas v3.27	CASP14	Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: CASP14. Tag Q1_24_expert_review was removed from gene: CASP14.
06 Dec 2024	Palmoplantar keratodermas v3.27	POMP	Achchuthan Shanmugasundram commented on gene: POMP
06 Dec 2024	Palmoplantar keratodermas v3.27	TGM5	Achchuthan Shanmugasundram reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Palmoplantar keratodermas v3.27	SLC27A4	Achchuthan Shanmugasundram reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.27	SERPINB8	Achchuthan Shanmugasundram reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Palmoplantar keratodermas v3.27	PHYH	Achchuthan Shanmugasundram reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.27	PEX7	Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.27	PERP	Achchuthan Shanmugasundram commented on gene: PERP: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
06 Dec 2024	Palmoplantar keratodermas v3.27	MVK	Achchuthan Shanmugasundram reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.27	JUP	Achchuthan Shanmugasundram reviewed gene: JUP: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Palmoplantar keratodermas v3.27	FLG2	Achchuthan Shanmugasundram reviewed gene: FLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Palmoplantar keratodermas v3.27	CLDN1	Achchuthan Shanmugasundram reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.27	CASP14	Achchuthan Shanmugasundram reviewed gene: CASP14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2024	Palmoplantar keratodermas v3.26	TGM5	Achchuthan Shanmugasundram Source Expert Review Green was added to TGM5. Source NHS GMS was added to TGM5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	SLC27A4	Achchuthan Shanmugasundram Source Expert Review Red was added to SLC27A4. Rating Changed from Green List (high evidence) to Red List (low evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	SERPINB8	Achchuthan Shanmugasundram Source Expert Review Green was added to SERPINB8. Source NHS GMS was added to SERPINB8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	PHYH	Achchuthan Shanmugasundram Source Expert Review Red was added to PHYH. Rating Changed from Green List (high evidence) to Red List (low evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	PEX7	Achchuthan Shanmugasundram Source Expert Review Red was added to PEX7. Rating Changed from Green List (high evidence) to Red List (low evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	PERP	Achchuthan Shanmugasundram Source Expert Review Green was added to PERP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	MVK	Achchuthan Shanmugasundram Source Expert Review Red was added to MVK. Rating Changed from Green List (high evidence) to Red List (low evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	JUP	Achchuthan Shanmugasundram Mode of inheritance for gene JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2024	Palmoplantar keratodermas v3.26	FLG2	Achchuthan Shanmugasundram Source Expert Review Green was added to FLG2. Source NHS GMS was added to FLG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	CLDN1	Achchuthan Shanmugasundram Source Expert Review Red was added to CLDN1. Rating Changed from Green List (high evidence) to Red List (low evidence)
06 Dec 2024	Palmoplantar keratodermas v3.26	CASP14	Achchuthan Shanmugasundram Source Expert Review Red was added to CASP14. Rating Changed from Green List (high evidence) to Red List (low evidence)
26 Mar 2024	Palmoplantar keratodermas v3.25	ABHD5	Arina Puzriakova Phenotypes for gene: ABHD5 were changed from Neutral lipid storage disease to Chanarin-Dorfman syndrome, OMIM:275630
26 Feb 2024	Palmoplantar keratodermas v3.24	PEX7	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PEX7.
26 Feb 2024	Palmoplantar keratodermas v3.24	PEX7	Sarah Leigh reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Feb 2024	Palmoplantar keratodermas v3.24	MVK	Sarah Leigh reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Feb 2024	Palmoplantar keratodermas v3.24	MVK	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: MVK. Tag Q1_24_expert_review tag was added to gene: MVK.
26 Feb 2024	Palmoplantar keratodermas v3.24	CLDN1	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: CLDN1. Tag Q1_24_expert_review tag was added to gene: CLDN1.
26 Feb 2024	Palmoplantar keratodermas v3.24	CLDN1	Sarah Leigh reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Feb 2024	Palmoplantar keratodermas v3.24	CASP14	Sarah Leigh edited their review of gene: CASP14: Changed rating: RED
26 Feb 2024	Palmoplantar keratodermas v3.24	CASP14	Sarah Leigh reviewed gene: CASP14: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Feb 2024	Palmoplantar keratodermas v3.24	CASP14	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: CASP14. Tag Q1_24_expert_review tag was added to gene: CASP14.
01 Feb 2024	Palmoplantar keratodermas v3.24	PHYH	Sarah Leigh Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, OMIM:266500
01 Feb 2024	Palmoplantar keratodermas v3.23	PHYH	Sarah Leigh reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
01 Feb 2024	Palmoplantar keratodermas v3.23	PHYH	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PHYH. Tag Q1_24_expert_review tag was added to gene: PHYH.
01 Feb 2024	Palmoplantar keratodermas v3.23	SLC27A4	Sarah Leigh Tag Q1_24_expert_review tag was added to gene: SLC27A4.
01 Feb 2024	Palmoplantar keratodermas v3.23	SLC27A4	Sarah Leigh Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, OMIM:608649
01 Feb 2024	Palmoplantar keratodermas v3.22	SLC27A4	Sarah Leigh Tag Q1_24_demote_red tag was added to gene: SLC27A4.
01 Feb 2024	Palmoplantar keratodermas v3.22	SLC27A4	Sarah Leigh reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
24 Jan 2024	Palmoplantar keratodermas v3.22	POMP	Arina Puzriakova Tag Q1_24_demote_red tag was added to gene: POMP. Tag Q1_24_expert_review tag was added to gene: POMP.
24 Jan 2024	Palmoplantar keratodermas v3.22	POMP	Arina Puzriakova changed review comment from: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group. There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2). If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review). --- Supporting evidence (reviews copied from R165 panel): Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation. PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.; to: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group. PPK is a key feature of KLICK syndrome, and there are sufficient cases to support causation (PMID:20226437 and PMID:27503413). However, the pathogenic variant reported in all cases so far is the same 1bp deletion in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2). If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review). --- Supporting evidence (reviews copied from R165 panel): Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation. PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
24 Jan 2024	Palmoplantar keratodermas v3.22	POMP	Arina Puzriakova Publications for gene: POMP were set to 27503413; 20226437
24 Jan 2024	Palmoplantar keratodermas v3.21	POMP	Arina Puzriakova Phenotypes for gene: POMP were changed from Keratosis linearis with ichthyosis congenita and sclerosing keratoderma to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
24 Jan 2024	Palmoplantar keratodermas v3.20	POMP	Arina Puzriakova Publications for gene: POMP were set to
24 Jan 2024	Palmoplantar keratodermas v3.19	POMP	Arina Puzriakova Classified gene: POMP as Green List (high evidence)
24 Jan 2024	Palmoplantar keratodermas v3.19	POMP	Arina Puzriakova Added comment: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group. There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2). If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review). --- Supporting evidence (reviews copied from R165 panel): Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation. PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
24 Jan 2024	Palmoplantar keratodermas v3.19	POMP	Arina Puzriakova Gene: pomp has been classified as Green List (High Evidence).
24 Jan 2024	Palmoplantar keratodermas v3.18	POMP	Arina Puzriakova Classified gene: POMP as Green List (high evidence)
24 Jan 2024	Palmoplantar keratodermas v3.18	POMP	Arina Puzriakova Added comment: Comment on list classification: Inclusion of this gene on the panel should be reviewed by the NHSE specialist group. There is sufficient evidence to support a gene-disease association, however the pathogenic variant reported in all cases so far is in the 5'UTR of the POMP gene (c.-95delC). For this reason, it is currently rated as Red on the R165 Ichthyosis and erythrokeratoderma panel (v3.2). If it is decided that POMP should remain as Green on this panel, it should probably also be promoted to Green status on R165 (also tagged for expert review). --- Supporting evidence (reviews copied from R165 panel): Palmoplantar keratoderma (PPK) is a phenotype of 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (KLICK syndrome). In 12 patients from 8 unrelated European families (from Spain, Italy, Netherlands, Sweden, Norway) with OMIM:601952, Dahlqvist et al. (2010, PMID: 20226437) identified homozygosity for a 1-bp deletion (-95delC) within a highly conserved 5' region of the POMP gene. Haplotype analysis suggested that the -95delC variant is a recurrent rather than a founder mutation. PMID:27503413 (Morice-Picard, 2017) report a young patient born from related parents, originally from the SW of France. The patient was presenting at birth with palmar keratoderma, and PPK was still present at the age of 11 years. Molecular analysis identified a homozygous 1-bp deletion in the 5′UTR non-coding region of the POMP gene (c.-95delC)- the same variation as reported in 20226437.
24 Jan 2024	Palmoplantar keratodermas v3.18	POMP	Arina Puzriakova Gene: pomp has been classified as Green List (High Evidence).
24 Jan 2024	Palmoplantar keratodermas v3.17	POMP	Arina Puzriakova Tag promoter tag was added to gene: POMP. Tag non-coding-known-pathogenic tag was added to gene: POMP.
07 Nov 2023	Palmoplantar keratodermas v3.17	SASH1	Arina Puzriakova Mode of inheritance for gene: SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
07 Nov 2023	Palmoplantar keratodermas v3.16	SASH1	Arina Puzriakova Phenotypes for gene: SASH1 were changed from Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo) to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
31 Oct 2023	Palmoplantar keratodermas v3.15	FAM83G	Arina Puzriakova Publications for gene: FAM83G were set to 29138053
31 Oct 2023	Palmoplantar keratodermas v3.14	FAM83G	Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
31 Oct 2023	Palmoplantar keratodermas v3.14	FAM83G	Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Amber inline with expert review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.
31 Oct 2023	Palmoplantar keratodermas v3.14	FAM83G	Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Palmoplantar keratodermas v3.13	FLG2	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: FLG2. Tag Q4_23_NHS_review tag was added to gene: FLG2.
31 Oct 2023	Palmoplantar keratodermas v3.13	FLG2	Arina Puzriakova Classified gene: FLG2 as Amber List (moderate evidence)
31 Oct 2023	Palmoplantar keratodermas v3.13	FLG2	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
31 Oct 2023	Palmoplantar keratodermas v3.13	FLG2	Arina Puzriakova Gene: flg2 has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Palmoplantar keratodermas v3.12	FLG2	Arina Puzriakova Publications for gene: FLG2 were set to PubMed: 28884927; 29505760
31 Oct 2023	Palmoplantar keratodermas v3.11	FLG2	Arina Puzriakova Phenotypes for gene: FLG2 were changed from peeling skin syndrome-6 (PSS6) (MIM 618084) to Peeling skin syndrome 6, OMIM: 618084
31 Oct 2023	Palmoplantar keratodermas v3.10	TGM5	Arina Puzriakova Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
31 Oct 2023	Palmoplantar keratodermas v3.9	TGM5	Arina Puzriakova Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796
31 Oct 2023	Palmoplantar keratodermas v3.8	TGM5	Arina Puzriakova Classified gene: TGM5 as Amber List (moderate evidence)
31 Oct 2023	Palmoplantar keratodermas v3.8	TGM5	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
31 Oct 2023	Palmoplantar keratodermas v3.8	TGM5	Arina Puzriakova Gene: tgm5 has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Palmoplantar keratodermas v3.7	TGM5	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: TGM5. Tag Q4_23_NHS_review tag was added to gene: TGM5.
31 Oct 2023	Palmoplantar keratodermas v3.7	SERPINB8	Arina Puzriakova Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115
31 Oct 2023	Palmoplantar keratodermas v3.6	SERPINB8	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SERPINB8. Tag Q4_23_NHS_review tag was added to gene: SERPINB8.
31 Oct 2023	Palmoplantar keratodermas v3.6	SERPINB8	Arina Puzriakova Classified gene: SERPINB8 as Amber List (moderate evidence)
31 Oct 2023	Palmoplantar keratodermas v3.6	SERPINB8	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques.
31 Oct 2023	Palmoplantar keratodermas v3.6	SERPINB8	Arina Puzriakova Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
05 May 2023	Palmoplantar keratodermas v3.2	SERPINB8	Tom Cullup gene: SERPINB8 was added gene: SERPINB8 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to PubMed: 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 Penetrance for gene: SERPINB8 were set to unknown Review for gene: SERPINB8 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Palmoplantar keratodermas v3.2	TGM5	Tom Cullup gene: TGM5 was added gene: TGM5 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214 Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2 Penetrance for gene: TGM5 were set to unknown Review for gene: TGM5 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Palmoplantar keratodermas v3.2	FLG2	Tom Cullup gene: FLG2 was added gene: FLG2 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG2 were set to PubMed: 28884927; 29505760 Phenotypes for gene: FLG2 were set to peeling skin syndrome-6 (PSS6) (MIM 618084) Penetrance for gene: FLG2 were set to unknown Review for gene: FLG2 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Palmoplantar keratodermas v3.2	FAM83G	Tom Cullup reviewed gene: FAM83G: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29138053, 31656861, 29963719; Phenotypes: palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Mar 2023	Palmoplantar keratodermas v3.1		Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
22 Mar 2023	Palmoplantar keratodermas v3.0		Sarah Leigh promoted panel to version 3.0
10 Feb 2023	Palmoplantar keratodermas v2.7	KDSR	Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
10 Feb 2023	Palmoplantar keratodermas v2.7	KDSR	Achchuthan Shanmugasundram Publications for gene: KDSR were set to
31 Jan 2023	Palmoplantar keratodermas v2.6	DSC3	Arina Puzriakova Tag Q2_22_MOI was removed from gene: DSC3.
31 Jan 2023	Palmoplantar keratodermas v2.6	CDSN	Arina Puzriakova Tag Q2_22_rating was removed from gene: CDSN. Tag Q2_22_expert_review was removed from gene: CDSN.
31 Jan 2023	Palmoplantar keratodermas v2.6	SPINK5	Arina Puzriakova Tag Q4_21_MOI was removed from gene: SPINK5.
31 Jan 2023	Palmoplantar keratodermas v2.6	SLURP1	Arina Puzriakova Tag Q2_22_MOI was removed from gene: SLURP1.
31 Jan 2023	Palmoplantar keratodermas v2.6	DSC2	Arina Puzriakova Tag Q4_21_MOI was removed from gene: DSC2.
31 Jan 2023	Palmoplantar keratodermas v2.6	CDSN	Arina Puzriakova commented on gene: CDSN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.
31 Jan 2023	Palmoplantar keratodermas v2.6	SPINK5	Arina Puzriakova commented on gene: SPINK5
31 Jan 2023	Palmoplantar keratodermas v2.6	SLURP1	Arina Puzriakova commented on gene: SLURP1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
31 Jan 2023	Palmoplantar keratodermas v2.6	DSC3	Arina Puzriakova commented on gene: DSC3
31 Jan 2023	Palmoplantar keratodermas v2.6	DSC2	Arina Puzriakova commented on gene: DSC2
31 Jan 2023	Palmoplantar keratodermas v2.5	SPINK5	Arina Puzriakova Mode of inheritance for gene SPINK5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
31 Jan 2023	Palmoplantar keratodermas v2.5	SLURP1	Arina Puzriakova Mode of inheritance for gene SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
31 Jan 2023	Palmoplantar keratodermas v2.5	DSC3	Arina Puzriakova Mode of inheritance for gene DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
31 Jan 2023	Palmoplantar keratodermas v2.5	DSC2	Arina Puzriakova Mode of inheritance for gene DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
09 Dec 2022	Palmoplantar keratodermas v2.4	PERP	Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: PERP.
09 Dec 2022	Palmoplantar keratodermas v2.4	PERP	Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Dominant and Recessive Keratoderma to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; Ichthyosis, MONDO:0019269
09 Dec 2022	Palmoplantar keratodermas v2.3	PERP	Achchuthan Shanmugasundram Publications for gene: PERP were set to 30321533
09 Dec 2022	Palmoplantar keratodermas v2.2	PERP	Achchuthan Shanmugasundram Classified gene: PERP as Amber List (moderate evidence)
09 Dec 2022	Palmoplantar keratodermas v2.2	PERP	Achchuthan Shanmugasundram Gene: perp has been classified as Amber List (Moderate Evidence).
09 Dec 2022	Palmoplantar keratodermas v2.1	PERP	Achchuthan Shanmugasundram reviewed gene: PERP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898316, 30321533, 31361044, 34265120, 34863005, 32593191; Phenotypes: Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269, Alopecia universalis, Congenital hypotrichosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
30 Nov 2022	Palmoplantar keratodermas v2.1		Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Palmoplantar keratodermas v2.0		Achchuthan Shanmugasundram promoted panel to version 2.0
10 Oct 2022	Palmoplantar keratodermas v1.21	JUP	Arina Puzriakova Added comment: Comment on mode of inheritance: Pathogenic heterozygous germline variants in JUP are associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) without abnormalities of hair or skin. On the other hand, recessive variants are associated with Naxos disease which manifests a range of ectodermal features including palmoplantar keratoderma. Therefore, the MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.
10 Oct 2022	Palmoplantar keratodermas v1.21	JUP	Arina Puzriakova Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
10 Oct 2022	Palmoplantar keratodermas v1.20	JUP	Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease; Desmosomal disorders to Naxos disease, OMIM:601214; Palmoplantar keratoderma, keratoderma with woolly hair
10 Oct 2022	Palmoplantar keratodermas v1.19	JUP	Arina Puzriakova Tag Q4_22_MOI tag was added to gene: JUP.
10 Oct 2022	Palmoplantar keratodermas v1.19	DSP	Arina Puzriakova Phenotypes for gene: DSP were changed from Desmosomal disorders to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Keratosis palmoplantaris striata II, OMIM:612908 (AD)
29 Jul 2022	Palmoplantar keratodermas v1.18	STK11	Arina Puzriakova commented on gene: STK11
29 Jul 2022	Palmoplantar keratodermas v1.17	STK11	Arina Puzriakova Source Expert Review Red was added to STK11. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
14 Apr 2022	Palmoplantar keratodermas v1.16	DSC3	Eleanor Williams Phenotypes for gene: DSC3 were changed from Desmosomal disorders; Palmoplantar keratoderma, woolly hair to Desmosomal disorders; Palmoplantar keratoderma, woolly hair; Hypotrichosis and recurrent skin vesicles, OMIM:613102; hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136
14 Apr 2022	Palmoplantar keratodermas v1.15	DSC3	Eleanor Williams Publications for gene: DSC3 were set to
14 Apr 2022	Palmoplantar keratodermas v1.14	DSC3	Eleanor Williams changed review comment from: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance. Two cases reported, both with homozygous variants in the affected individuals. PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3. PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727) was identified. The parents and unaffected sister were heterozygous for this variant.; to: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance. Two cases reported, both with homozygous variants in the affected individuals. PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3. PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727) was identified. The parents and unaffected sister were heterozygous for this variant. PMID: 18682494 - Chen et al 2008 - mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
14 Apr 2022	Palmoplantar keratodermas v1.14	DSC3	Eleanor Williams Added comment: Comment on mode of inheritance: Only cases with homozygous variants have been reported, therefore it is recommended that the mode of inheritance is changed to Biallelic only following GMS review.
14 Apr 2022	Palmoplantar keratodermas v1.14	DSC3	Eleanor Williams Mode of inheritance for gene: DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Apr 2022	Palmoplantar keratodermas v1.13	DSC3	Eleanor Williams Tag Q2_22_MOI tag was added to gene: DSC3.
14 Apr 2022	Palmoplantar keratodermas v1.13	DSC3	Eleanor Williams commented on gene: DSC3
06 Apr 2022	Palmoplantar keratodermas v1.13	SLURP1	Arina Puzriakova Tag Q2_21_MOI was removed from gene: SLURP1. Tag Q2_22_MOI tag was added to gene: SLURP1.
05 Apr 2022	Palmoplantar keratodermas v1.13	CDSN	Arina Puzriakova Tag Q2_22_rating tag was added to gene: CDSN. Tag Q2_22_expert_review tag was added to gene: CDSN.
05 Apr 2022	Palmoplantar keratodermas v1.13	CDSN	Arina Puzriakova commented on gene: CDSN
28 Mar 2022	Palmoplantar keratodermas v1.13	SLURP1	Arina Puzriakova Tag Q2_21_MOI tag was added to gene: SLURP1.
28 Mar 2022	Palmoplantar keratodermas v1.13	SLURP1	Arina Puzriakova reviewed gene: SLURP1: Rating: ; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, OMIM:248300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
28 Mar 2022	Palmoplantar keratodermas v1.13	SLURP1	Arina Puzriakova Phenotypes for gene: SLURP1 were changed from Mal de Meleda to Meleda disease, OMIM:248300
14 Mar 2022	Palmoplantar keratodermas v1.12	ST14	Catherine Snow Tag for-review was removed from gene: ST14.
14 Mar 2022	Palmoplantar keratodermas v1.12	ST14	Catherine Snow commented on gene: ST14
14 Mar 2022	Palmoplantar keratodermas v1.11	ST14	Catherine Snow Source Expert Review Red was added to ST14. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Jan 2022	Palmoplantar keratodermas v1.10	MVK	Arina Puzriakova Phenotypes for gene: MVK were changed from porokeratosis of Mibelli; Actinic porokeratosis to Porokeratosis 3, multiple types, OMIM:175900
01 Nov 2021	Palmoplantar keratodermas v1.9	DSC2	Ivone Leong Tag Q4_21_MOI tag was added to gene: DSC2.
01 Nov 2021	Palmoplantar keratodermas v1.9	DSC2	Ivone Leong reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2021	Palmoplantar keratodermas v1.9	SPINK5	Ivone Leong reviewed gene: SPINK5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2021	Palmoplantar keratodermas v1.9	SPINK5	Ivone Leong Tag Q4_21_MOI tag was added to gene: SPINK5.
31 Aug 2021	Palmoplantar keratodermas v1.9	GJA1	Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Oculodentodigital dysplasia, OMIM:164200
24 Aug 2021	Palmoplantar keratodermas v1.8	ALDH3A2	Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome, OMIM:270200
28 Jan 2021	Palmoplantar keratodermas v1.7	SULT2B1	Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14; 617571 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
18 Jan 2021	Palmoplantar keratodermas v1.6	ST14	Sarah Leigh Publications for gene: ST14 were set to
18 Jan 2021	Palmoplantar keratodermas v1.5	ST14	Sarah Leigh Classified gene: ST14 as Green List (high evidence)
18 Jan 2021	Palmoplantar keratodermas v1.5	ST14	Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel, so it should be changed to RED at the next major review.
18 Jan 2021	Palmoplantar keratodermas v1.5	ST14	Sarah Leigh Gene: st14 has been classified as Green List (High Evidence).
18 Jan 2021	Palmoplantar keratodermas v1.4	ST14	Sarah Leigh Tag for-review tag was added to gene: ST14.
18 Jan 2021	Palmoplantar keratodermas v1.4	ST14	Sarah Leigh reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: 17273967, 18445049, 18843291, 29611532; Phenotypes: ; Mode of inheritance: None
15 Oct 2020	Palmoplantar keratodermas v1.4		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off Panel version has been signed off
19 Aug 2020	Palmoplantar keratodermas v1.3	ARSE	Zornitza Stark reviewed gene: ARSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
19 Aug 2020	Palmoplantar keratodermas v1.3	CASP14	Zornitza Stark reviewed gene: CASP14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	CLDN1	Zornitza Stark reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: 15521008; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (MIM#607626); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	MVK	Zornitza Stark reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porokeratosis 3, multiple types, MIM# 175900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Aug 2020	Palmoplantar keratodermas v1.3	PEX7	Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B (AR), Rhizomelic chondrodysplasia punctata, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	PHYH	Zornitza Stark reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease (MIM#266500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	SLC27A4	Zornitza Stark reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis prematurity syndrome (MIM#608649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	ST14	Zornitza Stark reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 (MIM#602400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2020	Palmoplantar keratodermas v1.3	STK11	Zornitza Stark reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome (MIM#175200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Feb 2020	Palmoplantar keratodermas v1.3		Sarah Leigh Panel version has been signed off
18 Dec 2019	Palmoplantar keratodermas v1.0	LOR	Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
18 Dec 2019	Palmoplantar keratodermas v1.0	LOR	Louise Daugherty commented on gene: LOR
12 Dec 2019	Palmoplantar keratodermas v1.0		Catherine Snow promoted panel to version 1.0
12 Dec 2019	Palmoplantar keratodermas v0.11		Catherine Snow List of related panels changed from to R166 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
12 Dec 2019	Palmoplantar keratodermas v0.10	FLG	Catherine Snow Publications for gene: FLG were set to
09 Sep 2019	Palmoplantar keratodermas v0.9	STK11	Catherine Snow reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Sep 2019	Palmoplantar keratodermas v0.8	ARSE	Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
06 Sep 2019	Palmoplantar keratodermas v0.8	ARSE	Louise Daugherty commented on gene: ARSE
02 Sep 2019	Palmoplantar keratodermas v0.8	STK11	Catherine Snow gene: STK11 was added gene: STK11 was added to Palmoplantar keratodermas. Sources: Expert Review Amber Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Palmoplantar keratodermas v0.5	SASH1	Rebecca Foulger Source London North GLH was added to SASH1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PKP2	Rebecca Foulger Source London North GLH was added to PKP2.
18 Feb 2019	Palmoplantar keratodermas v0.5	PERP	Rebecca Foulger Source London North GLH was added to PERP.
18 Feb 2019	Palmoplantar keratodermas v0.5	FAM83G	Rebecca Foulger Source London North GLH was added to FAM83G.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG2	Rebecca Foulger Source London North GLH was added to DSG2.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC1	Rebecca Foulger Source London North GLH was added to DSC1.
18 Feb 2019	Palmoplantar keratodermas v0.5	VPS33B	Rebecca Foulger Source London North GLH was added to VPS33B.
18 Feb 2019	Palmoplantar keratodermas v0.5	TRPV3	Rebecca Foulger Source London North GLH was added to TRPV3.
18 Feb 2019	Palmoplantar keratodermas v0.5	TGM1	Rebecca Foulger Source London North GLH was added to TGM1.
18 Feb 2019	Palmoplantar keratodermas v0.5	SULT2B1	Rebecca Foulger Source London North GLH was added to SULT2B1.
18 Feb 2019	Palmoplantar keratodermas v0.5	STS	Rebecca Foulger Source London North GLH was added to STS.
18 Feb 2019	Palmoplantar keratodermas v0.5	ST14	Rebecca Foulger Source London North GLH was added to ST14.
18 Feb 2019	Palmoplantar keratodermas v0.5	SPINK5	Rebecca Foulger Source London North GLH was added to SPINK5.
18 Feb 2019	Palmoplantar keratodermas v0.5	SNAP29	Rebecca Foulger Source London North GLH was added to SNAP29.
18 Feb 2019	Palmoplantar keratodermas v0.5	SLURP1	Rebecca Foulger Source London North GLH was added to SLURP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	SLC27A4	Rebecca Foulger Source London North GLH was added to SLC27A4.
18 Feb 2019	Palmoplantar keratodermas v0.5	SERPINB7	Rebecca Foulger Source London North GLH was added to SERPINB7.
18 Feb 2019	Palmoplantar keratodermas v0.5	SDR9C7	Rebecca Foulger Source London North GLH was added to SDR9C7.
18 Feb 2019	Palmoplantar keratodermas v0.5	RSPO1	Rebecca Foulger Source London North GLH was added to RSPO1.
18 Feb 2019	Palmoplantar keratodermas v0.5	RHBDF2	Rebecca Foulger Source London North GLH was added to RHBDF2.
18 Feb 2019	Palmoplantar keratodermas v0.5	POMP	Rebecca Foulger Source London North GLH was added to POMP.
18 Feb 2019	Palmoplantar keratodermas v0.5	PNPLA1	Rebecca Foulger Source London North GLH was added to PNPLA1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PKP1	Rebecca Foulger Source London North GLH was added to PKP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PHYH	Rebecca Foulger Source London North GLH was added to PHYH.
18 Feb 2019	Palmoplantar keratodermas v0.5	PEX7	Rebecca Foulger Source London North GLH was added to PEX7.
18 Feb 2019	Palmoplantar keratodermas v0.5	NSDHL	Rebecca Foulger Source London North GLH was added to NSDHL.
18 Feb 2019	Palmoplantar keratodermas v0.5	NIPAL4	Rebecca Foulger Source London North GLH was added to NIPAL4.
18 Feb 2019	Palmoplantar keratodermas v0.5	MVK	Rebecca Foulger Source London North GLH was added to MVK.
18 Feb 2019	Palmoplantar keratodermas v0.5	MBTPS2	Rebecca Foulger Source London North GLH was added to MBTPS2.
18 Feb 2019	Palmoplantar keratodermas v0.5	LOR	Rebecca Foulger Source London North GLH was added to LOR.
18 Feb 2019	Palmoplantar keratodermas v0.5	LIPN	Rebecca Foulger Source London North GLH was added to LIPN.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT9	Rebecca Foulger Source London North GLH was added to KRT9.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT6C	Rebecca Foulger Source London North GLH was added to KRT6C.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT2	Rebecca Foulger Source London North GLH was added to KRT2.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT10	Rebecca Foulger Source London North GLH was added to KRT10.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT1	Rebecca Foulger Source London North GLH was added to KRT1.
18 Feb 2019	Palmoplantar keratodermas v0.5	KDSR	Rebecca Foulger Source London North GLH was added to KDSR.
18 Feb 2019	Palmoplantar keratodermas v0.5	KANK2	Rebecca Foulger Source London North GLH was added to KANK2.
18 Feb 2019	Palmoplantar keratodermas v0.5	JUP	Rebecca Foulger Source London North GLH was added to JUP.
18 Feb 2019	Palmoplantar keratodermas v0.5	GJB2	Rebecca Foulger Source London North GLH was added to GJB2.
18 Feb 2019	Palmoplantar keratodermas v0.5	GJA1	Rebecca Foulger Source London North GLH was added to GJA1.
18 Feb 2019	Palmoplantar keratodermas v0.5	FLG	Rebecca Foulger Source London North GLH was added to FLG.
18 Feb 2019	Palmoplantar keratodermas v0.5	ENPP1	Rebecca Foulger Source London North GLH was added to ENPP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	ELOVL4	Rebecca Foulger Source London North GLH was added to ELOVL4.
18 Feb 2019	Palmoplantar keratodermas v0.5	EBP	Rebecca Foulger Source London North GLH was added to EBP.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSP	Rebecca Foulger Source London North GLH was added to DSP.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG4	Rebecca Foulger Source London North GLH was added to DSG4.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG1	Rebecca Foulger Source London North GLH was added to DSG1.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC3	Rebecca Foulger Source London North GLH was added to DSC3.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC2	Rebecca Foulger Source London North GLH was added to DSC2.
18 Feb 2019	Palmoplantar keratodermas v0.5	CYP4F22	Rebecca Foulger Source London North GLH was added to CYP4F22.
18 Feb 2019	Palmoplantar keratodermas v0.5	CTSC	Rebecca Foulger Source London North GLH was added to CTSC.
18 Feb 2019	Palmoplantar keratodermas v0.5	CSTA	Rebecca Foulger Source London North GLH was added to CSTA.
18 Feb 2019	Palmoplantar keratodermas v0.5	CLDN1	Rebecca Foulger Source London North GLH was added to CLDN1.
18 Feb 2019	Palmoplantar keratodermas v0.5	CERS3	Rebecca Foulger Source London North GLH was added to CERS3.
18 Feb 2019	Palmoplantar keratodermas v0.5	CDSN	Rebecca Foulger Source London North GLH was added to CDSN.
18 Feb 2019	Palmoplantar keratodermas v0.5	CAST	Rebecca Foulger Source London North GLH was added to CAST.
18 Feb 2019	Palmoplantar keratodermas v0.5	CASP14	Rebecca Foulger Source London North GLH was added to CASP14.
18 Feb 2019	Palmoplantar keratodermas v0.5	ARSE	Rebecca Foulger Source London North GLH was added to ARSE.
18 Feb 2019	Palmoplantar keratodermas v0.5	AQP5	Rebecca Foulger Source London North GLH was added to AQP5.
18 Feb 2019	Palmoplantar keratodermas v0.5	AP1S1	Rebecca Foulger Source London North GLH was added to AP1S1.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALOXE3	Rebecca Foulger Source London North GLH was added to ALOXE3.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALOX12B	Rebecca Foulger Source London North GLH was added to ALOX12B.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALDH3A2	Rebecca Foulger Source London North GLH was added to ALDH3A2.
18 Feb 2019	Palmoplantar keratodermas v0.5	ADAM17	Rebecca Foulger Source London North GLH was added to ADAM17.
18 Feb 2019	Palmoplantar keratodermas v0.5	ABHD5	Rebecca Foulger Source London North GLH was added to ABHD5.
18 Feb 2019	Palmoplantar keratodermas v0.5	ABCA12	Rebecca Foulger Source London North GLH was added to ABCA12.
18 Feb 2019	Palmoplantar keratodermas v0.5	AAGAB	Rebecca Foulger Source London North GLH was added to AAGAB.
28 Jan 2019	Palmoplantar keratodermas v0.4	VPS33B	Rebecca Foulger reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	TRPV3	Rebecca Foulger reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	TGM1	Rebecca Foulger reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SULT2B1	Rebecca Foulger reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	STS	Rebecca Foulger reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ST14	Rebecca Foulger reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SPINK5	Rebecca Foulger reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SNAP29	Rebecca Foulger reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SLURP1	Rebecca Foulger reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SLC27A4	Rebecca Foulger reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	SERPINB7	Rebecca Foulger reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	SDR9C7	Rebecca Foulger reviewed gene: SDR9C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	SASH1	Rebecca Foulger reviewed gene: SASH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	RSPO1	Rebecca Foulger reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	RHBDF2	Rebecca Foulger reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	POMP	Rebecca Foulger reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	PNPLA1	Rebecca Foulger reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	PKP2	Rebecca Foulger reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	PKP1	Rebecca Foulger reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	PHYH	Rebecca Foulger reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	PEX7	Rebecca Foulger reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	PERP	Rebecca Foulger reviewed gene: PERP: Rating: RED; Mode of pathogenicity: ; Publications: 30321533; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	NSDHL	Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	NIPAL4	Rebecca Foulger reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	MVK	Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	MBTPS2	Rebecca Foulger reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	LOR	Rebecca Foulger reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	LIPN	Rebecca Foulger reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KRT9	Rebecca Foulger reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KRT6C	Rebecca Foulger reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KRT2	Rebecca Foulger reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KRT10	Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KRT1	Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	KDSR	Rebecca Foulger reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	KANK2	Rebecca Foulger reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	JUP	Rebecca Foulger reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	GJB2	Rebecca Foulger reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	GJA1	Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	FLG	Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	FAM83G	Rebecca Foulger reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: ; Publications: 29138053; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	ENPP1	Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ELOVL4	Rebecca Foulger reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	EBP	Rebecca Foulger reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSP	Rebecca Foulger reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSG4	Rebecca Foulger reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSG2	Rebecca Foulger reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	DSG1	Rebecca Foulger reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSC3	Rebecca Foulger reviewed gene: DSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSC2	Rebecca Foulger reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	DSC1	Rebecca Foulger reviewed gene: DSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	CYP4F22	Rebecca Foulger reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CTSC	Rebecca Foulger reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CSTA	Rebecca Foulger reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CLDN1	Rebecca Foulger reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CERS3	Rebecca Foulger reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CDSN	Rebecca Foulger reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	CAST	Rebecca Foulger reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	CASP14	Rebecca Foulger reviewed gene: CASP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Jan 2019	Palmoplantar keratodermas v0.4	ARSE	Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	AQP5	Rebecca Foulger reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	AP1S1	Rebecca Foulger reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ALOXE3	Rebecca Foulger reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ALOX12B	Rebecca Foulger reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ALDH3A2	Rebecca Foulger reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ADAM17	Rebecca Foulger reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ABHD5	Rebecca Foulger reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	ABCA12	Rebecca Foulger reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.4	AAGAB	Rebecca Foulger reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
28 Jan 2019	Palmoplantar keratodermas v0.3	VPS33B	Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	TRPV3	Rebecca Foulger gene: TRPV3 was added gene: TRPV3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV3 were set to Olmstedt syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	TGM1	Rebecca Foulger gene: TGM1 was added gene: TGM1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	SULT2B1	Rebecca Foulger gene: SULT2B1 was added gene: SULT2B1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14; 617571
28 Jan 2019	Palmoplantar keratodermas v0.3	STS	Rebecca Foulger gene: STS was added gene: STS was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to X linked ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	ST14	Rebecca Foulger gene: ST14 was added gene: ST14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	SPINK5	Rebecca Foulger gene: SPINK5 was added gene: SPINK5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPINK5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton Syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	SNAP29	Rebecca Foulger gene: SNAP29 was added gene: SNAP29 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	SLURP1	Rebecca Foulger gene: SLURP1 was added gene: SLURP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLURP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLURP1 were set to Mal de Meleda
28 Jan 2019	Palmoplantar keratodermas v0.3	SLC27A4	Rebecca Foulger gene: SLC27A4 was added gene: SLC27A4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	SERPINB7	Rebecca Foulger gene: SERPINB7 was added gene: SERPINB7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINB7 were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	SDR9C7	Rebecca Foulger gene: SDR9C7 was added gene: SDR9C7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to 617574; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
28 Jan 2019	Palmoplantar keratodermas v0.3	SASH1	Rebecca Foulger gene: SASH1 was added gene: SASH1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
28 Jan 2019	Palmoplantar keratodermas v0.3	RSPO1	Rebecca Foulger gene: RSPO1 was added gene: RSPO1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO1 were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	RHBDF2	Rebecca Foulger gene: RHBDF2 was added gene: RHBDF2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RHBDF2 were set to Tylosis with esophageal cancer
28 Jan 2019	Palmoplantar keratodermas v0.3	POMP	Rebecca Foulger gene: POMP was added gene: POMP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	PNPLA1	Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	PKP2	Rebecca Foulger gene: PKP2 was added gene: PKP2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PKP2 was set to Phenotypes for gene: PKP2 were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	PKP1	Rebecca Foulger gene: PKP1 was added gene: PKP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKP1 were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	PHYH	Rebecca Foulger gene: PHYH was added gene: PHYH was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease
28 Jan 2019	Palmoplantar keratodermas v0.3	PEX7	Rebecca Foulger gene: PEX7 was added gene: PEX7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Refsum disease
28 Jan 2019	Palmoplantar keratodermas v0.3	PERP	Rebecca Foulger gene: PERP was added gene: PERP was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PERP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PERP were set to 30321533 Phenotypes for gene: PERP were set to Dominant and Recessive Keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	NSDHL	Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NSDHL were set to CHILD syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	NIPAL4	Rebecca Foulger gene: NIPAL4 was added gene: NIPAL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	MVK	Rebecca Foulger gene: MVK was added gene: MVK was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MVK were set to porokeratosis of Mibelli; Actinic porokeratosis
28 Jan 2019	Palmoplantar keratodermas v0.3	MBTPS2	Rebecca Foulger gene: MBTPS2 was added gene: MBTPS2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Olmstedt syndrome; IFAP syndrome; Keratosis follicularis spinulosa decalvans
28 Jan 2019	Palmoplantar keratodermas v0.3	LOR	Rebecca Foulger gene: LOR was added gene: LOR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LOR were set to Loricrin keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	LIPN	Rebecca Foulger gene: LIPN was added gene: LIPN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	KRT9	Rebecca Foulger gene: KRT9 was added gene: KRT9 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT9 were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	KRT6C	Rebecca Foulger gene: KRT6C was added gene: KRT6C was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	KRT2	Rebecca Foulger gene: KRT2 was added gene: KRT2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT2 were set to Autosomal dominant ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	KRT10	Rebecca Foulger gene: KRT10 was added gene: KRT10 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Pachyonychia congenita; Palmoplantar keratoderma; Ichythosis with confetti; Epidermolytic hyperkeratosis
28 Jan 2019	Palmoplantar keratodermas v0.3	KRT1	Rebecca Foulger gene: KRT1 was added gene: KRT1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis
28 Jan 2019	Palmoplantar keratodermas v0.3	KDSR	Rebecca Foulger gene: KDSR was added gene: KDSR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4
28 Jan 2019	Palmoplantar keratodermas v0.3	KANK2	Rebecca Foulger gene: KANK2 was added gene: KANK2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma, woolly hair
28 Jan 2019	Palmoplantar keratodermas v0.3	JUP	Rebecca Foulger gene: JUP was added gene: JUP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease; Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	GJB2	Rebecca Foulger gene: GJB2 was added gene: GJB2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB2 were set to KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
28 Jan 2019	Palmoplantar keratodermas v0.3	GJA1	Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 25398053 Phenotypes for gene: GJA1 were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	FLG	Rebecca Foulger gene: FLG was added gene: FLG was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS
28 Jan 2019	Palmoplantar keratodermas v0.3	FAM83G	Rebecca Foulger gene: FAM83G was added gene: FAM83G was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM83G were set to 29138053 Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	ENPP1	Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENPP1 were set to Cole disease
28 Jan 2019	Palmoplantar keratodermas v0.3	ELOVL4	Rebecca Foulger gene: ELOVL4 was added gene: ELOVL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ELOVL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, mental retardation
28 Jan 2019	Palmoplantar keratodermas v0.3	EBP	Rebecca Foulger gene: EBP was added gene: EBP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EBP were set to Conradi-Hunnermann-Happle syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	DSP	Rebecca Foulger gene: DSP was added gene: DSP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	DSG4	Rebecca Foulger gene: DSG4 was added gene: DSG4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG4 were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	DSG2	Rebecca Foulger gene: DSG2 was added gene: DSG2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DSG2 was set to Phenotypes for gene: DSG2 were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	DSG1	Rebecca Foulger gene: DSG1 was added gene: DSG1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSG1 were set to Palmoplantar keratoderma; Congenital erythroderma with palmoplantar keratoderma; Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	DSC3	Rebecca Foulger gene: DSC3 was added gene: DSC3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC3 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
28 Jan 2019	Palmoplantar keratodermas v0.3	DSC2	Rebecca Foulger gene: DSC2 was added gene: DSC2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
28 Jan 2019	Palmoplantar keratodermas v0.3	DSC1	Rebecca Foulger gene: DSC1 was added gene: DSC1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DSC1 was set to Phenotypes for gene: DSC1 were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	CYP4F22	Rebecca Foulger gene: CYP4F22 was added gene: CYP4F22 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	CTSC	Rebecca Foulger gene: CTSC was added gene: CTSC was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSC were set to Papillon-Lefvre syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	CSTA	Rebecca Foulger gene: CSTA was added gene: CSTA was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to susceptibility to psoriasis; susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	CLDN1	Rebecca Foulger gene: CLDN1 was added gene: CLDN1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Neonatal ichthyosis-sclerosing cholangitis syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	CERS3	Rebecca Foulger gene: CERS3 was added gene: CERS3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	CDSN	Rebecca Foulger gene: CDSN was added gene: CDSN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CDSN were set to Desmosomal disorders
28 Jan 2019	Palmoplantar keratodermas v0.3	CAST	Rebecca Foulger gene: CAST was added gene: CAST was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
28 Jan 2019	Palmoplantar keratodermas v0.3	CASP14	Rebecca Foulger gene: CASP14 was added gene: CASP14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12; 617320
28 Jan 2019	Palmoplantar keratodermas v0.3	ARSE	Rebecca Foulger gene: ARSE was added gene: ARSE was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata
28 Jan 2019	Palmoplantar keratodermas v0.3	AQP5	Rebecca Foulger gene: AQP5 was added gene: AQP5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma
28 Jan 2019	Palmoplantar keratodermas v0.3	AP1S1	Rebecca Foulger gene: AP1S1 was added gene: AP1S1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP1S1 were set to MEDNIK syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	ALOXE3	Rebecca Foulger gene: ALOXE3 was added gene: ALOXE3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	ALOX12B	Rebecca Foulger gene: ALOX12B was added gene: ALOX12B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Autosomal recessive congenital ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	ALDH3A2	Rebecca Foulger gene: ALDH3A2 was added gene: ALDH3A2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
28 Jan 2019	Palmoplantar keratodermas v0.3	ADAM17	Rebecca Foulger gene: ADAM17 was added gene: ADAM17 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal
28 Jan 2019	Palmoplantar keratodermas v0.3	ABHD5	Rebecca Foulger gene: ABHD5 was added gene: ABHD5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD5 were set to Neutral lipid storage disease
28 Jan 2019	Palmoplantar keratodermas v0.3	ABCA12	Rebecca Foulger gene: ABCA12 was added gene: ABCA12 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to autosomal recessive congenital ichthyosis; Harlequin ichthyosis
28 Jan 2019	Palmoplantar keratodermas v0.3	AAGAB	Rebecca Foulger gene: AAGAB was added gene: AAGAB was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AAGAB were set to Palmoplantar keratoderma
20 Dec 2018	Palmoplantar keratodermas v0.2		Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
16 Nov 2018	Palmoplantar keratodermas v0.0		Ellen McDonagh Added Panel Palmoplantar keratodermas Set panel types to: GMS Rare Disease