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Ichthyosis and erythrokeratoderma v4.9 MPDU1 Veronica Kinsler gene: MPDU1 was added
gene: MPDU1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733556
Phenotypes for gene: MPDU1 were set to Ichthyosis
Penetrance for gene: MPDU1 were set to unknown
Review for gene: MPDU1 was set to GREEN
Added comment: Sources: Literature
Ichthyosis and erythrokeratoderma v4.8 AP1B1 Achchuthan Shanmugasundram Classified gene: AP1B1 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v4.8 AP1B1 Achchuthan Shanmugasundram Gene: ap1b1 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v4.7 AP1B1 Achchuthan Shanmugasundram Phenotypes for gene: AP1B1 were changed from Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; ichthyosiform erythroderma, corneal involvement, and hearing loss, MONDO:0009440 to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781
Ichthyosis and erythrokeratoderma v4.6 AP1B1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: AP1B1.
Ichthyosis and erythrokeratoderma v4.6 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.Leu752Serfs*26). 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).
Sources: ClinGen, 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: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). 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).
Ichthyosis and erythrokeratoderma v4.6 AP1B1 Ida Ertmanska changed review comment from: Comment on list classification: There are at least 6 unrelated individuals with Keratitis-ichthyosis-deafness syndrome, harbouring biallelic variants in AP1B1. 6/6 individuals presented with ichthyosis, as well as associated conditions: erythroderma, palmoplantar hyperkeratosis, keratitis. Hence, this gene fits into the scope of the Monogenic hearing loss panel, and should be promoted to Green at the next GMS update.; to: Comment on list classification: There are at least 6 unrelated individuals with Keratitis-ichthyosis-deafness syndrome, harbouring biallelic variants in AP1B1. 6/6 individuals presented with ichthyosis, as well as associated conditions: erythroderma, palmoplantar hyperkeratosis, keratitis. Hence, this gene fits into the scope of the Ichthyosis and erythrokeratoderma panel, and should be promoted to Green at the next GMS update.
Ichthyosis and erythrokeratoderma v4.6 AP1B1 Ida Ertmanska edited their review of gene: AP1B1: Changed phenotypes to: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150, KID syndrome, MONDO:0018781
Ichthyosis and erythrokeratoderma v4.6 AP1B1 Ida Ertmanska commented on gene: AP1B1: Comment on list classification: There are at least 6 unrelated individuals with Keratitis-ichthyosis-deafness syndrome, harbouring biallelic variants in AP1B1. 6/6 individuals presented with ichthyosis, as well as associated conditions: erythroderma, palmoplantar hyperkeratosis, keratitis. Hence, this gene fits into the scope of the Monogenic hearing loss panel, and should be promoted to Green at the next GMS update.
Ichthyosis and erythrokeratoderma v4.6 AP1B1 Ida Ertmanska gene: AP1B1 was added
gene: AP1B1 was added to Ichthyosis and erythrokeratoderma. Sources: ClinGen,Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630791; 33452671; 33349978; 32969855; 35144013
Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; ichthyosiform erythroderma, corneal involvement, and hearing loss, MONDO:0009440
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.Leu752Serfs*26). 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).
Sources: ClinGen, Literature
Ichthyosis and erythrokeratoderma v4.6 LSS Achchuthan Shanmugasundram Classified gene: LSS as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v4.6 LSS Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least seven unrelated patients reported with ichthyosis and/ or erythroderma. Hence, this gene can be promoted to green rating in the next GMS update.
Ichthyosis and erythrokeratoderma v4.6 LSS Achchuthan Shanmugasundram Gene: lss has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v4.5 LSS Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: LSS.
Ichthyosis and erythrokeratoderma v4.5 LSS Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #618840) and Gene2Phenotype (LSS-related palmoplantar keratoderma-congenital alopecia syndrome with 'limited' rating on Skin panel).

The OMIM phenotype was accessed on 29 September 2025.
Ichthyosis and erythrokeratoderma v4.5 LSS Achchuthan Shanmugasundram Phenotypes for gene: LSS were changed from Alopecia-intellectual disability syndrome 4, OMIM:618840; alopecia-intellectual disability syndrome 4, MONDO:0030009 to Alopecia-intellectual disability syndrome 4, OMIM:618840; alopecia-intellectual disability syndrome 4, MONDO:0030009
Ichthyosis and erythrokeratoderma v4.4 LSS Achchuthan Shanmugasundram gene: LSS was added
gene: LSS was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320; 35830358
Phenotypes for gene: LSS were set to Alopecia-intellectual disability syndrome 4, OMIM:618840; alopecia-intellectual disability syndrome 4, MONDO:0030009
Review for gene: LSS was set to GREEN
Added comment: PMID:30723320 (2019) reported the identification of biallelic LSS variants in ten individuals from six unrelated families. In addition, one affected individual was identified with a single rare variant in LSS and an allelic imbalance suggesting a second event. Among the identified variants, two were truncating, seven were missense, and two were splicing variants. All 11 individuals presented with congenital alopecia and developmental delay, while ichthyosis and/ or erythroderma were found in eight of these individuals from six families.

PMID:35830358 (2022) reported a 4-day-old female patient who presented with alopecia and a previously unreported dermatologic manifestation of congenital localized hyperpigmentation. Examination of the patient also revealed features consistent with ichthyosis. The patient was identified with two variants in LSS gene and a de novo pathogenic variant in SPTAN1 gene. The SPTAN1 variant is associated with neurodevelopmental phenotypes including early infantile epileptic encephalopathy. There are no known cutaneous manifestations of SPTAN1 variant.
Sources: Literature
Ichthyosis and erythrokeratoderma v4.3 FLG Arina Puzriakova Phenotypes for gene: FLG were changed from Ichthyosis vulgaris, OMIM:146700 to Ichthyosis vulgaris, OMIM:146700; Dermatitis, atopic, susceptibility to, 2, OMIM:605803; ichthyosis vulgaris, MONDO:0024304
Ichthyosis and erythrokeratoderma v4.2 FLG Arina Puzriakova Publications for gene: FLG were set to 16444271; 16815158; 17030239; 17291859
Ichthyosis and erythrokeratoderma v4.1 FLG Arina Puzriakova Tag Q3_25_MOI tag was added to gene: FLG.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska changed review comment from: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.; to: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska changed review comment from: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).
PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.; to: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska changed review comment from: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.; to: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).
PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska changed review comment from: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.; to: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska edited their review of gene: FLG: Added comment: Comment on list classification: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel. Based on the available evidence, this gene should be rated Green for Ichthyosis and erythrokeratoderma.; Changed publications to: 16444271, 16550169, 24940654, 22409988, 33807935, 36716921, 36751330
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska changed review comment from: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.; to: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and/or symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska commented on gene: FLG: There are at least 42 unrelated patients with variants in FLG with ichthyosis vulgaris and symmetrical acral keratoderma, which fits into the scope of this panel.

Ichthyosis vulgaris is characterized clinically by xerosis, hyperkeratosis, excess scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. The penetrance of ichthyosis vulgaris is estimated at 83%–96%, with variable severity of symptoms; mild phenotype may escape diagnosis. Majority of affected individuals will experience symptoms before age 5. Importantly, the frequency and type of variants associated with disease varies between ancestry groups (PMID: 36751330 Jaffar et al., 2022).

PMID:16444271 Smith et al., 2006: 7 unrelated families and 8 sporadic cases of Caucasian ancestry with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon c.1501C>T (p.Arg501Ter), or compound heterozygous for this variant and a frameshift variant c.2282_2285del (p.Ser761fs). Homozygous/compound heterozygous cases had a more severe phenotype.
c.1501C>T p.(Arg501Ter) - European population frequency in gnomAD v4.1.0 = 0.02138, including 296 homozygotes.
c.2282_2285del p.(Ser761fs) - European population freq in gnomad V.4.1.0 = 0.02330, including 386 homozygotes.

PMID: 33807935 Fozia et al., 2021: Family D, Pakistani origin, consanguineous; phenotype: congenital erythroderma, ichthyosis vulgaris; method: WES; 3 affected members homozygous FLG: c.6109C>T; p. (Arg2037Ter) - gnomAD South Asian pop freq = 0.001164, 3 homozygotes.

Symmetrical Acral Keratoderma (SAK) is a rare skin condition, more common in young Asian men, characterized by symmetrical, brownish-black, thickened skin patches (plaques) on the hands, feet, and wrists, with occasional involvement of elbows and knees (sparing the palms and soles).

PMID:36716921 Liu et al., 2023: 33 of the 36 patients with SAK carried pathogenic variants in the FLG. Method: WES +Sanger validation. 20/36 of the individuals had ichthyosis vulgaris in addition to Symmetrical Acral Keratoderma.

Functional studies: Knockdown of FLG in three-dimensional reconstructed human epidermis (RHE) showed hypogranulosis, a disturbed corneocyte intracellular matrix, impaired keratinocyte differentiation (PMID: 24940654 Pendaries et al., 2014). Newborn Flg(-/-) knockout 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 Ichthyosis and erythrokeratoderma.
Ichthyosis and erythrokeratoderma v4.1 FLG Ida Ertmanska reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16444271, 16550169; Phenotypes: Ichthyosis vulgaris, OMIM:146700, Dermatitis, atopic, susceptibility to, 2, OMIM: 605803, ichthyosis vulgaris, MONDO:0024304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v4.1 VIPAS39 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: VIPAS39.
Tag Q3_25_promote_green tag was added to gene: VIPAS39.
Ichthyosis and erythrokeratoderma v4.1 Sarah Leigh Panel version 4.0 has been signed off on 2025-04-30
Ichthyosis and erythrokeratoderma v4.0 Sarah Leigh promoted panel to version 4.0
Ichthyosis and erythrokeratoderma v3.33 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404) to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Ichthyosis and erythrokeratoderma v3.32 VIPAS39 Arina Puzriakova Classified gene: VIPAS39 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.32 VIPAS39 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Ichthyosis and erythrokeratoderma v3.32 VIPAS39 Arina Puzriakova Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.31 VIPAS39 Arina Puzriakova gene: VIPAS39 was added
gene: VIPAS39 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Q1_23_promote_green tags were added to gene: VIPAS39.
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 39736737; 37202112; 32239418; 26019847
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404)
Review for gene: VIPAS39 was set to GREEN
Added comment: VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 11 individuals have been reported in the literature. Ichthyosis is a feature of ARCS and has been reported in at least 7 individuals with VIPAS39 variants (PMID:39736737; 37202112; 32239418; 26019847) which supports inclusion of this gene on the panel.
Sources: Literature
Ichthyosis and erythrokeratoderma v3.30 TGM5 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TGM5.
Tag Q4_23_NHS_review was removed from gene: TGM5.
Ichthyosis and erythrokeratoderma v3.30 SREBF1 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SREBF1.
Ichthyosis and erythrokeratoderma v3.30 SERPINB8 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SERPINB8.
Tag Q4_23_NHS_review was removed from gene: SERPINB8.
Ichthyosis and erythrokeratoderma v3.30 PERP Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: PERP.
Ichthyosis and erythrokeratoderma v3.30 CSTA Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CSTA.
Tag Q4_23_NHS_review was removed from gene: CSTA.
Ichthyosis and erythrokeratoderma v3.30 CDSN Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CDSN.
Tag Q4_23_NHS_review was removed from gene: CDSN.
Ichthyosis and erythrokeratoderma v3.30 ABHD5 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ABHD5.
Tag Q1_24_NHS_review was removed from gene: ABHD5.
Ichthyosis and erythrokeratoderma v3.30 POMP Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: POMP.
Tag Q1_24_expert_review was removed from gene: POMP.
Ichthyosis and erythrokeratoderma v3.30 TGM5 Achchuthan Shanmugasundram reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.30 SREBF1 Achchuthan Shanmugasundram commented on gene: SREBF1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v3.30 SERPINB8 Achchuthan Shanmugasundram reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.30 POMP Achchuthan Shanmugasundram reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.30 PERP Achchuthan Shanmugasundram commented on gene: PERP: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v3.30 CSTA Achchuthan Shanmugasundram reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.30 CDSN Achchuthan Shanmugasundram reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.30 ABHD5 Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.29 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)
Ichthyosis and erythrokeratoderma v3.29 SREBF1 Achchuthan Shanmugasundram Source Expert Review Green was added to SREBF1.
Source NHS GMS was added to SREBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.29 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)
Ichthyosis and erythrokeratoderma v3.29 POMP Achchuthan Shanmugasundram Source Expert Review Green was added to POMP.
Source NHS GMS was added to POMP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.29 PERP Achchuthan Shanmugasundram Source Expert Review Green was added to PERP.
Source NHS GMS was added to PERP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.29 CSTA Achchuthan Shanmugasundram Source Expert Review Green was added to CSTA.
Source NHS GMS was added to CSTA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.29 CDSN Achchuthan Shanmugasundram Source Expert Review Green was added to CDSN.
Source NHS GMS was added to CDSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.29 ABHD5 Achchuthan Shanmugasundram Source Expert Review Green was added to ABHD5.
Source NHS GMS was added to ABHD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v3.28 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Ichthyosis and erythrokeratoderma v3.28 DBR1 Achchuthan Shanmugasundram Classified gene: DBR1 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.28 DBR1 Achchuthan Shanmugasundram Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.27 DBR1 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: DBR1.
Ichthyosis and erythrokeratoderma v3.27 DBR1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant.; to: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant. There is functional data available. This gene can only be rated amber with the current evidence.

The 'founder-effect' tag is added to this gene.
Ichthyosis and erythrokeratoderma v3.27 DBR1 Achchuthan Shanmugasundram Classified gene: DBR1 as No list
Ichthyosis and erythrokeratoderma v3.27 DBR1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant.
Ichthyosis and erythrokeratoderma v3.27 DBR1 Achchuthan Shanmugasundram Gene: dbr1 has been removed from the panel.
Ichthyosis and erythrokeratoderma v3.26 DBR1 Achchuthan Shanmugasundram edited their review of gene: DBR1: Changed phenotypes to: ichthyosis, MONDO:0019269
Ichthyosis and erythrokeratoderma v3.26 DBR1 Achchuthan Shanmugasundram Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to ichthyosis, MONDO:0019269
Ichthyosis and erythrokeratoderma v3.25 DBR1 Achchuthan Shanmugasundram reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: inherited ichthyosis, MONDO:0015947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.25 ABHD5 Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, one of the most the most prominent of features is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.; to: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, the most prominent feature is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.
Ichthyosis and erythrokeratoderma v3.25 ABHD5 Arina Puzriakova Classified gene: ABHD5 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.25 ABHD5 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, one of the most the most prominent of features is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.
Ichthyosis and erythrokeratoderma v3.25 ABHD5 Arina Puzriakova Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.24 ABHD5 Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: ABHD5.
Tag Q1_24_NHS_review tag was added to gene: ABHD5.
Ichthyosis and erythrokeratoderma v3.24 ABHD5 Arina Puzriakova Publications for gene: ABHD5 were set to PubMed: 11590543
Ichthyosis and erythrokeratoderma v3.23 ABHD5 Arina Puzriakova Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome to Chanarin-Dorfman syndrome, OMIM:275630
Ichthyosis and erythrokeratoderma v3.22 POMP Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: POMP.
Tag Q1_24_expert_review tag was added to gene: POMP.
Ichthyosis and erythrokeratoderma v3.22 POMP Arina Puzriakova Classified gene: POMP as Red List (low evidence)
Ichthyosis and erythrokeratoderma v3.22 POMP Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the gene-disease association but based on previous reviews, POMP is currently classified as Red on this panel due the single 1bp deletion identified in all cases to date residing in the 5'UTR of the POMP gene.

The gene rating is conflicting on the R166 Palmoplantar keratodermas, where POMP is rated Green for the same phenotype. This has been tagged for NHSE expert review, and therefore also tagging the association on this panel so that the two panels can be considered together and the overall classification be aligned.
Ichthyosis and erythrokeratoderma v3.22 POMP Arina Puzriakova Gene: pomp has been classified as Red List (Low Evidence).
Ichthyosis and erythrokeratoderma v3.21 POMP Arina Puzriakova Publications for gene: POMP were set to 27503413; 20226437
Ichthyosis and erythrokeratoderma v3.20 POMP Arina Puzriakova Phenotypes for gene: POMP were changed from Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Ichthyosis and erythrokeratoderma v3.19 POMP Arina Puzriakova Tag non-coding-known-pathogenic tag was added to gene: POMP.
Ichthyosis and erythrokeratoderma v3.19 ABHD5 Tom Cullup gene: ABHD5 was added
gene: ABHD5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to PubMed: 11590543
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome
Penetrance for gene: ABHD5 were set to Complete
Review for gene: ABHD5 was set to GREEN
Added comment: Green gene on multiple panels including PPK. Request from Dr G Petrof, GOSH, to add this gene to ichthyosis, as this is part of presenting phenotype in Chanarin-Dorfman syndrome.
Sources: Expert list
Ichthyosis and erythrokeratoderma v3.19 SASH1 Arina Puzriakova Phenotypes for gene: SASH1 were changed from Pigmentation defects, palmoplantar keratoderma and skin carcinoma to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Ichthyosis and erythrokeratoderma v3.18 FAM83G Arina Puzriakova Publications for gene: FAM83G were set to
Ichthyosis and erythrokeratoderma v3.17 FAM83G Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.17 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.
Ichthyosis and erythrokeratoderma v3.17 FAM83G Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.16 TGM5 Arina Puzriakova Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
Ichthyosis and erythrokeratoderma v3.15 TGM5 Arina Puzriakova Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796
Ichthyosis and erythrokeratoderma v3.14 TGM5 Arina Puzriakova Classified gene: TGM5 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.14 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.
Ichthyosis and erythrokeratoderma v3.14 TGM5 Arina Puzriakova Gene: tgm5 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.13 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.
Ichthyosis and erythrokeratoderma v3.13 SERPINB8 Arina Puzriakova Classified gene: SERPINB8 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.13 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.
Ichthyosis and erythrokeratoderma v3.13 SERPINB8 Arina Puzriakova Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.12 SERPINB8 Arina Puzriakova Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115
Ichthyosis and erythrokeratoderma v3.11 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.
Ichthyosis and erythrokeratoderma v3.11 CSTA Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CSTA.
Tag Q4_23_NHS_review tag was added to gene: CSTA.
Ichthyosis and erythrokeratoderma v3.11 CSTA Arina Puzriakova Classified gene: CSTA as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.11 CSTA 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.
Ichthyosis and erythrokeratoderma v3.11 CSTA Arina Puzriakova Gene: csta has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.10 CSTA Arina Puzriakova Phenotypes for gene: CSTA were changed from peeling skin syndrome-4 (PSS4) to Peeling skin syndrome 4, OMIM:607936
Ichthyosis and erythrokeratoderma v3.9 CDSN Arina Puzriakova Phenotypes for gene: CDSN were changed from Hypotrichosis 2; Peeling skin syndrome 1 to Peeling skin syndrome 1, OMIM:270300
Ichthyosis and erythrokeratoderma v3.8 CDSN Arina Puzriakova Mode of inheritance for gene: CDSN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v3.7 CDSN Arina Puzriakova Classified gene: CDSN as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.7 CDSN 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.

Changing MOI from 'BOTH mono- and biallelic' to 'BIALLELIC' as monoallelic variants are associated with hypotrichosis simplex of the scalp without other abnormalities (MIM# 146520).
Ichthyosis and erythrokeratoderma v3.7 CDSN Arina Puzriakova Gene: cdsn has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.6 CDSN Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CDSN.
Tag Q4_23_NHS_review tag was added to gene: CDSN.
Ichthyosis and erythrokeratoderma v3.3 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Ichthyosis (MONDO#0019269), DBR1-related
Review for gene: DBR1 was set to AMBER
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Ichthyosis and erythrokeratoderma v3.3 SERPINB8 Tom Cullup gene: SERPINB8 was added
gene: SERPINB8 was added to Ichthyosis and erythrokeratoderma. 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
Ichthyosis and erythrokeratoderma v3.3 TGM5 Tom Cullup gene: TGM5 was added
gene: TGM5 was added to Ichthyosis and erythrokeratoderma. 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
Ichthyosis and erythrokeratoderma v3.3 CDSN Tom Cullup gene: CDSN was added
gene: CDSN was added to Ichthyosis and erythrokeratoderma. Sources: Expert list
Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDSN were set to PubMed: 21191406; 12754508; 23957618
Phenotypes for gene: CDSN were set to Hypotrichosis 2; Peeling skin syndrome 1
Penetrance for gene: CDSN were set to unknown
Review for gene: CDSN was set to GREEN
Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Ichthyosis and erythrokeratoderma v3.3 CSTA Tom Cullup gene: CSTA was added
gene: CSTA was added to Ichthyosis and erythrokeratoderma. Sources: Expert list
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 21944047; 23534700
Phenotypes for gene: CSTA were set to peeling skin syndrome-4 (PSS4)
Penetrance for gene: CSTA were set to unknown
Review for gene: CSTA was set to GREEN
Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Ichthyosis and erythrokeratoderma v3.3 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
Ichthyosis and erythrokeratoderma v3.3 Eleanor Williams Panel version 3.2 has been signed off on 2023-03-22
Ichthyosis and erythrokeratoderma v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
Ichthyosis and erythrokeratoderma v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Ichthyosis and erythrokeratoderma v3.0 Sarah Leigh promoted panel to version 3.0
Ichthyosis and erythrokeratoderma v2.13 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
Ichthyosis and erythrokeratoderma v2.13 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to 28575652
Ichthyosis and erythrokeratoderma v2.12 GTF2E2 Arina Puzriakova Tag Q3_21_rating was removed from gene: GTF2E2.
Ichthyosis and erythrokeratoderma v2.12 GJA1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
Ichthyosis and erythrokeratoderma v2.12 ELOVL1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ELOVL1.
Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova Tag Q2_21_rating was removed from gene: TRPV3.
Tag Q2_21_expert_review was removed from gene: TRPV3.
Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova commented on gene: TRPV3
Ichthyosis and erythrokeratoderma v2.12 GTF2E2 Arina Puzriakova commented on gene: GTF2E2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v2.12 GJA1 Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v2.12 ELOVL1 Arina Puzriakova commented on gene: ELOVL1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v2.11 GTF2E2 Arina Puzriakova Source Expert Review Green was added to GTF2E2.
Source NHS GMS was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v2.11 GJA1 Arina Puzriakova Source NHS GMS was added to GJA1.
Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v2.11 ELOVL1 Arina Puzriakova Source Expert Review Green was added to ELOVL1.
Source NHS GMS was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v2.10 SREBF1 Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: SREBF1.
Ichthyosis and erythrokeratoderma v2.10 SREBF1 Achchuthan Shanmugasundram Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221; Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017
Ichthyosis and erythrokeratoderma v2.9 SREBF1 Achchuthan Shanmugasundram Publications for gene: SREBF1 were set to 32497488
Ichthyosis and erythrokeratoderma v2.8 SREBF1 Achchuthan Shanmugasundram Classified gene: SREBF1 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v2.8 SREBF1 Achchuthan Shanmugasundram Gene: srebf1 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v2.7 SREBF1 Achchuthan Shanmugasundram reviewed gene: SREBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31790666, 32497488, 32902915, 33253727, 33742461; Phenotypes: Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221, Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma v2.7 PERP Achchuthan Shanmugasundram edited their review of gene: PERP: Changed phenotypes to: Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269, Alopecia universalis, congenital hypotrichosis
Ichthyosis and erythrokeratoderma v2.7 PERP Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; ichthyosis, MONDO:0019269 to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; Ichthyosis, MONDO:0019269
Ichthyosis and erythrokeratoderma v2.6 PERP Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Olmsted syndrome-2, MIM# 619208, MONDO_003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO_0030941; ichthyosis, MONDO:0019269 to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; ichthyosis, MONDO:0019269
Ichthyosis and erythrokeratoderma v2.5 PERP Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: PERP.
Ichthyosis and erythrokeratoderma v2.5 PERP Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome-2, MIM# 619208, MONDO_003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO_0030941; ichthyosis, MONDO:0019269
Ichthyosis and erythrokeratoderma v2.4 PERP Achchuthan Shanmugasundram Publications for gene: PERP were set to 31898316
Ichthyosis and erythrokeratoderma v2.3 PERP Achchuthan Shanmugasundram Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v2.2 PERP Achchuthan Shanmugasundram Classified gene: PERP as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v2.2 PERP Achchuthan Shanmugasundram Gene: perp has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma 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
Ichthyosis and erythrokeratoderma v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
Ichthyosis and erythrokeratoderma v2.0 Eleanor Williams promoted panel to version 2.0
Ichthyosis and erythrokeratoderma v1.73 TRPV3 Eleanor Williams commented on gene: TRPV3
Ichthyosis and erythrokeratoderma v1.73 TRPV3 Eleanor Williams Tag Q2_21_expert_review tag was added to gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.73 ALDH1L2 Catherine Snow Classified gene: ALDH1L2 as Red List (low evidence)
Ichthyosis and erythrokeratoderma v1.73 ALDH1L2 Catherine Snow Added comment: Comment on list classification: Rating red. One individual reported with neuro-ichthyotic syndrome phenotype of congenital ichthyosis with a variant in ALDH1L2 therefore not enough evidence to ascertain gene disease relationship
Ichthyosis and erythrokeratoderma v1.73 ALDH1L2 Catherine Snow Gene: aldh1l2 has been classified as Red List (Low Evidence).
Ichthyosis and erythrokeratoderma v1.72 ISCA-37417-Loss Arina Puzriakova commented on Region: ISCA-37417-Loss
Ichthyosis and erythrokeratoderma v1.72 ISCA-37417-Loss Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913.
Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60.
Ichthyosis and erythrokeratoderma v1.71 ASPRV1 Arina Puzriakova Tag Q2_21_rating was removed from gene: ASPRV1.
Tag Q4_21_NHS_review was removed from gene: ASPRV1.
Ichthyosis and erythrokeratoderma v1.71 ALDH3A2 Arina Puzriakova Tag Q3_21_rating was removed from gene: ALDH3A2.
Tag Q3_21_NHS_review was removed from gene: ALDH3A2.
Ichthyosis and erythrokeratoderma v1.71 ASPRV1 Arina Puzriakova commented on gene: ASPRV1
Ichthyosis and erythrokeratoderma v1.71 ALDH3A2 Arina Puzriakova commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v1.70 ASPRV1 Arina Puzriakova Source Expert Review Green was added to ASPRV1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v1.70 ALDH3A2 Arina Puzriakova Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v1.69 ALDH3A2 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: ALDH3A2.
Ichthyosis and erythrokeratoderma v1.69 ELOVL1 Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v2.107
Ichthyosis and erythrokeratoderma v1.69 ELOVL1 Arina Puzriakova gene: ELOVL1 was added
gene: ELOVL1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list,Expert Review Amber
missense, Q4_21_rating tags were added to gene: ELOVL1.
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL1 were set to 23689133; 29496980; 30487246; 32123819
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Ichthyosis and erythrokeratoderma v1.68 ASPRV1 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ASPRV1.
Ichthyosis and erythrokeratoderma v1.68 DSC2 Ivone Leong Deleted their review
Ichthyosis and erythrokeratoderma v1.68 DSC2 Ivone Leong Deleted their comment
Ichthyosis and erythrokeratoderma v1.68 ASPRV1 Tom Cullup reviewed gene: ASPRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32516568; Phenotypes: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma v1.68 GTF2E2 Arina Puzriakova Classified gene: GTF2E2 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v1.68 GTF2E2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - two distinct homozygous variants identified in 5 individuals from 4 families who all had ichthyosis among other features. Supportive in vitro studies that demonstrate functional impairment.
Ichthyosis and erythrokeratoderma v1.68 GTF2E2 Arina Puzriakova Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v1.67 GTF2E2 Arina Puzriakova gene: GTF2E2 was added
gene: GTF2E2 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Q3_21_rating tags were added to gene: GTF2E2.
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to 26996949; 28973399
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Review for gene: GTF2E2 was set to GREEN
Added comment: Four individuals from 3 different Moroccan families with the same homozygous variant (c.C559T) in the GTF2E2 gene have been identified, as well as an additional patient from Asian origin with a distinct homozygous variant (c.448G>C). Predominant phenotype was that of trichothiodystrophy; however, all 5 individuals also had ID/DD, microcephaly and ichthyosis - and therefore adding GTF2E2 to these relevant panel.
Sources: Literature
Ichthyosis and erythrokeratoderma v1.66 GJA1 Arina Puzriakova Tag Q3_21_expert_review was removed from gene: GJA1.
Ichthyosis and erythrokeratoderma v1.66 GJA1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder.

Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100)

GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).; to: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update.

GJA1 was imported to this panel from the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and the MOI reflects the mixed inheritance pattern associated with GJA1 oculodentodigital dysplasia (ODDD) (dominant - MIM:164200; recessive - MIM:257850) which can manifest with PPK. Following the uncoupling of PPK and erythrokeratodermas into two separate GMS panels (R165 & R166), only monoallelic variants remain relevant to this particular panel.

Monoallelic variants can cause erythrokeratodermia variabilis et progressiva 3 (MIM: 617525). Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM:104100), also associated with heterozygous variants.
Ichthyosis and erythrokeratoderma v1.66 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Ichthyosis and erythrokeratoderma v1.65 GJA1 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1.
Tag Q3_21_expert_review tag was added to gene: GJA1.
Ichthyosis and erythrokeratoderma v1.65 GJA1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder.

Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100)

GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).
Ichthyosis and erythrokeratoderma v1.65 GJA1 Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v1.64 ALDH3A2 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green on this panel.; to: Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.
Ichthyosis and erythrokeratoderma v1.64 ALDH3A2 Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v1.64 ALDH3A2 Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v1.63 ALDH3A2 Arina Puzriakova Tag Q3_21_rating tag was added to gene: ALDH3A2.
Ichthyosis and erythrokeratoderma v1.63 ALDH3A2 Arina Puzriakova Entity copied from Autosomal recessive congenital ichthyosis v1.13
Ichthyosis and erythrokeratoderma v1.63 ALDH3A2 Arina Puzriakova gene: ALDH3A2 was added
gene: ALDH3A2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 9829906; 16476818; 25784589; 27547594; 29071827; 29183715; 29375833; 29704247; 30157790; 30403285; 31273323; 31388754; 31944864; 32930514; 34082469; 34315315
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200
Penetrance for gene: ALDH3A2 were set to Complete
Ichthyosis and erythrokeratoderma v1.62 ASPRV1 Arina Puzriakova Classified gene: ASPRV1 as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v1.62 ASPRV1 Arina Puzriakova Gene: asprv1 has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v1.61 ASPRV1 Arina Puzriakova Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, OMIM:146750
Ichthyosis and erythrokeratoderma v1.60 ASPRV1 Catherine Snow Tag Q2_21_rating tag was added to gene: ASPRV1.
Ichthyosis and erythrokeratoderma v1.60 ASPRV1 Catherine Snow reviewed gene: ASPRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32516568; Phenotypes: Ichthyosis, lamellar, autosomal dominant, OMIM #146750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow Tag Q2_21_NHS_review was removed from gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow Tag Q2_21_rating tag was added to gene: TRPV3.
Tag Q2_21_NHS_review tag was added to gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ichthyosis and erythrokeratoderma v1.60 ALDH1L2 Zornitza Stark gene: ALDH1L2 was added
gene: ALDH1L2 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1L2 were set to 31341639; 33168096
Phenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Review for gene: ALDH1L2 was set to RED
Added comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease.
Sources: Literature
Ichthyosis and erythrokeratoderma v1.60 SMARCAD1 Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.59 KRT2 Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
Ichthyosis and erythrokeratoderma v1.57 TGM1 Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
Ichthyosis and erythrokeratoderma v1.55 STS Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
Ichthyosis and erythrokeratoderma v1.54 ST14 Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Ichthyosis and erythrokeratoderma v1.53 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
Ichthyosis and erythrokeratoderma v1.50 SLC27A4 Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
Ichthyosis and erythrokeratoderma v1.49 SERPINB7 Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
Ichthyosis and erythrokeratoderma v1.48 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
Ichthyosis and erythrokeratoderma v1.45 PNPLA1 Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Ichthyosis and erythrokeratoderma v1.44 PIGL Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
Ichthyosis and erythrokeratoderma v1.43 NIPAL4 Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Ichthyosis and erythrokeratoderma v1.42 LOR Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
Ichthyosis and erythrokeratoderma v1.37 KRT17 Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype:
Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.32 KDSR Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
Ichthyosis and erythrokeratoderma v1.29 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Ichthyosis and erythrokeratoderma v1.25 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
Ichthyosis and erythrokeratoderma v1.24 FLG Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
Ichthyosis and erythrokeratoderma v1.23 ENPP1 Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.22 DSP Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
Ichthyosis and erythrokeratoderma v1.20 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Ichthyosis and erythrokeratoderma v1.18 CYP4F22 Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Ichthyosis and erythrokeratoderma v1.17 CERS3 Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Ichthyosis and erythrokeratoderma v1.16 CLDN1 Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Ichthyosis and erythrokeratoderma v1.15 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Ichthyosis and erythrokeratoderma v1.14 CAST Ivone Leong Publications for gene: CAST were set to
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
Ichthyosis and erythrokeratoderma v1.12 AQP5 Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
Ichthyosis and erythrokeratoderma v1.11 ALOX12B Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.10 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
Ichthyosis and erythrokeratoderma v1.8 ABCA12 Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
Ichthyosis and erythrokeratoderma v1.6 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Ichthyosis and erythrokeratoderma v1.6 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Ichthyosis and erythrokeratoderma v1.5 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
Ichthyosis and erythrokeratoderma v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Ichthyosis and erythrokeratoderma v1.3 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v1.3 ASPRV1 Zornitza Stark gene: ASPRV1 was added
gene: ASPRV1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASPRV1 were set to 32516568
Phenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis
Review for gene: ASPRV1 was set to GREEN
gene: ASPRV1 was marked as current diagnostic
Added comment: -3 heterozygous missense variants identified across 4 unrelated kindreds
-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing
Sources: Literature
Ichthyosis and erythrokeratoderma v1.3 SREBF1 Zornitza Stark gene: SREBF1 was added
gene: SREBF1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF1 were set to 32497488
Phenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome
Review for gene: SREBF1 was set to GREEN
Added comment: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples.
Sources: Literature
Ichthyosis and erythrokeratoderma v1.3 PERP Zornitza Stark gene: PERP was added
gene: PERP was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERP were set to 31898316
Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet
Review for gene: PERP was set to AMBER
Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible.
Sources: Literature
Ichthyosis and erythrokeratoderma v1.3 Sarah Leigh Panel version has been signed off
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty commented on gene: LOR
Ichthyosis and erythrokeratoderma v1.0 Catherine Snow promoted panel to version 1.0
Ichthyosis and erythrokeratoderma v0.19 Catherine Snow List of related panels changed from to R165
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Added comment: Comment on list classification: Sufficient number of variants in OMIM to rate as Green
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM to promote to Green
Ichthyosis and erythrokeratoderma v0.17 SPINK5 Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Classified gene: PIGL as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Added comment: Comment on list classification: Sufficient cases identified in OMIM
Ichthyosis and erythrokeratoderma v0.16 PIGL Catherine Snow Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Classified gene: CLDN1 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM
Ichthyosis and erythrokeratoderma v0.15 CLDN1 Catherine Snow Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.14 LOR Catherine Snow Publications for gene: LOR were set to
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Classified gene: LOR as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Added comment: Comment on list classification: Sufficient number of variants identified in the literature to classify as Green.
Ichthyosis and erythrokeratoderma v0.13 LOR Catherine Snow Gene: lor has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.12 FLG Catherine Snow Publications for gene: FLG were set to
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Classified gene: FLG as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Added comment: Comment on list classification: Sufficient evidence and phenotype to be relevant as Green in the panel
Ichthyosis and erythrokeratoderma v0.11 FLG Catherine Snow Gene: flg has been classified as Green List (High Evidence).
Ichthyosis and erythrokeratoderma v0.10 SPINK5 Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 PIGL Catherine Snow reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG2 Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 CLDN1 Catherine Snow reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG Catherine Snow reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 LOR Catherine Snow reviewed gene: LOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 MSMO1 Catherine Snow reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 KRT2 Catherine Snow reviewed gene: KRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.9 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 PIGL Catherine Snow gene: PIGL was added
gene: PIGL was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 CLDN1 Catherine Snow gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG Catherine Snow gene: FLG was added
gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 LOR Catherine Snow gene: LOR was added
gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 MSMO1 Catherine Snow gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 KRT2 Catherine Snow gene: KRT2 was added
gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.4 POMP Ellen McDonagh Tag promoter tag was added to gene: POMP.
Ichthyosis and erythrokeratoderma v0.4 SMARCAD1 Ellen McDonagh Tag watchlist tag was added to gene: SMARCAD1.
Ichthyosis and erythrokeratoderma v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV3 were set to 25285920
Phenotypes for gene: TRPV3 were set to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594
Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 TGM1 Ellen McDonagh gene: TGM1 was added
gene: TGM1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300
Ichthyosis and erythrokeratoderma v0.3 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v0.3 SULT2B1 Ellen McDonagh gene: SULT2B1 was added
gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571
Ichthyosis and erythrokeratoderma v0.3 STS Ellen McDonagh gene: STS was added
gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: STS 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: STS were set to Ichthyosis, X-linked, 308100
Ichthyosis and erythrokeratoderma v0.3 ST14 Ellen McDonagh gene: ST14 was added
gene: ST14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
Ichthyosis and erythrokeratoderma v0.3 SNAP29 Ellen McDonagh gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 25958742; 21073448; 15968592
Phenotypes for gene: SNAP29 were set to CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v0.3 SMARCAD1 Ellen McDonagh gene: SMARCAD1 was added
gene: SMARCAD1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 24909267; 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome, 129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 SLURP1 Ellen McDonagh gene: SLURP1 was added
gene: SLURP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLURP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLURP1 were set to 16865292; 24738704; 14756676; 9887370; 25557416; 12483299; 24985918; 19692209; 17184264; 24604124; 16882192; 15026760; 11285253; 21690549; 23290002; 19120323
Phenotypes for gene: SLURP1 were set to keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300
Ichthyosis and erythrokeratoderma v0.3 SLC27A4 Ellen McDonagh gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
Ichthyosis and erythrokeratoderma v0.3 SERPINB7 Ellen McDonagh gene: SERPINB7 was added
gene: SERPINB7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB7 were set to 27666198; 26926003; 24207119; 25788444; 24514002; 24773080; 25940237; 26763456; 25029323; 28211129
Phenotypes for gene: SERPINB7 were set to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598
Ichthyosis and erythrokeratoderma v0.3 SDR9C7 Ellen McDonagh gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574
Ichthyosis and erythrokeratoderma v0.3 SASH1 Ellen McDonagh gene: SASH1 was added
gene: SASH1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASH1 were set to 25315659
Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma and skin carcinoma
Ichthyosis and erythrokeratoderma v0.3 RSPO1 Ellen McDonagh gene: RSPO1 was added
gene: RSPO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO1 were set to palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v0.3 RHBDF2 Ellen McDonagh gene: RHBDF2 was added
gene: RHBDF2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHBDF2 were set to 22265016; 22638770
Phenotypes for gene: RHBDF2 were set to Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Mode of pathogenicity for gene: RHBDF2 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 POMP Ellen McDonagh gene: POMP was added
gene: POMP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 27503413; 20226437
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
Ichthyosis and erythrokeratoderma v0.3 PNPLA1 Ellen McDonagh gene: PNPLA1 was added
gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024
Ichthyosis and erythrokeratoderma v0.3 NIPAL4 Ellen McDonagh gene: NIPAL4 was added
gene: NIPAL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281
Ichthyosis and erythrokeratoderma v0.3 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Publications for gene: MT-TS1 were set to 9450881
Phenotypes for gene: MT-TS1 were set to Keratoderma, Palmoplantar, with deafness; palmoplantar keratoderma with deafness
Ichthyosis and erythrokeratoderma v0.3 MBTPS2 Ellen McDonagh gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 22931912; 24313295
Phenotypes for gene: MBTPS2 were set to X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome); ?Olmsted syndrome, X-linked, 300918; IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Ichthyosis and erythrokeratoderma v0.3 LIPN Ellen McDonagh gene: LIPN was added
gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPN were set to 21439540
Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943
Ichthyosis and erythrokeratoderma v0.3 LIPH Ellen McDonagh gene: LIPH was added
gene: LIPH was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPH was set to
Phenotypes for gene: LIPH were set to Woolly hair/hypotrichosis syndrome
Ichthyosis and erythrokeratoderma v0.3 KRT9 Ellen McDonagh gene: KRT9 was added
gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199
Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v0.3 KRT6C Ellen McDonagh gene: KRT6C was added
gene: KRT6C was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6C were set to 19609311
Phenotypes for gene: KRT6C were set to Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails
Mode of pathogenicity for gene: KRT6C was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 KRT6B Ellen McDonagh gene: KRT6B was added
gene: KRT6B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6B were set to 16250204; 9618173
Phenotypes for gene: KRT6B were set to pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4
Ichthyosis and erythrokeratoderma v0.3 KRT6A Ellen McDonagh gene: KRT6A was added
gene: KRT6A was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6A were set to 16250204; 7545493; 22098151
Phenotypes for gene: KRT6A were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v0.3 KRT17 Ellen McDonagh gene: KRT17 was added
gene: KRT17 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT17 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KRT17 were set to 15102078; 22336949; 9008238; 7539673; 19659471
Phenotypes for gene: KRT17 were set to Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2
Ichthyosis and erythrokeratoderma v0.3 KRT16 Ellen McDonagh gene: KRT16 was added
gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673
Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 9804355
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v0.3 KRT1 Ellen McDonagh gene: KRT1 was added
gene: KRT1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT1 were set to 12406346; 11286630; 7528239
Phenotypes for gene: KRT1 were set to Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma
Ichthyosis and erythrokeratoderma v0.3 KDSR Ellen McDonagh gene: KDSR was added
gene: KDSR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28575652
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, 617526
Ichthyosis and erythrokeratoderma v0.3 KANK2 Ellen McDonagh gene: KANK2 was added
gene: KANK2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 24671081
Phenotypes for gene: KANK2 were set to PPKWH; Palmoplantar keratoderma and woolly hair, 616099
Ichthyosis and erythrokeratoderma v0.3 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 20130592; 10902626; 21668431
Phenotypes for gene: JUP were set to WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v0.3 ISCA-37417-Loss Ellen McDonagh Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to 308100; Ichthyosis, X-linked
Ichthyosis and erythrokeratoderma v0.3 GJB6 Ellen McDonagh gene: GJB6 was added
gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 8845850; 11874494
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v0.3 GJB4 Ellen McDonagh gene: GJB4 was added
gene: GJB4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB4 were set to 22266302; 21950330; 26826093; 23037955
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis et progressiva 2, 617524
Ichthyosis and erythrokeratoderma v0.3 GJB3 Ellen McDonagh gene: GJB3 was added
gene: GJB3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJB3 were set to 12019212; 9843209; 21564177; 10594760
Phenotypes for gene: GJB3 were set to Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v0.3 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 25388818; 25964267; 25168385; 16891658; 17256797; 25398053
Phenotypes for gene: GJA1 were set to keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma
Mode of pathogenicity for gene: GJA1 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 FAM83G Ellen McDonagh gene: FAM83G was added
gene: FAM83G was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma with leukonychia and abundant curly hair
Ichthyosis and erythrokeratoderma v0.3 ENPP1 Ellen McDonagh gene: ENPP1 was added
gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683
Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Ichthyosis and erythrokeratoderma v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398
Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v0.3 DSG2 Ellen McDonagh gene: DSG2 was added
gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair
Ichthyosis and erythrokeratoderma v0.3 DSG1 Ellen McDonagh gene: DSG1 was added
gene: DSG1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 27534273
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700
Ichthyosis and erythrokeratoderma v0.3 DSC2 Ellen McDonagh gene: DSC2 was added
gene: DSC2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 18957847
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v0.3 DES Ellen McDonagh gene: DES was added
gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I
Ichthyosis and erythrokeratoderma v0.3 CYP4F22 Ellen McDonagh gene: CYP4F22 was added
gene: CYP4F22 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Ichthyosis and erythrokeratoderma v0.3 CERS3 Ellen McDonagh gene: CERS3 was added
gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23549421; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Ichthyosis and erythrokeratoderma v0.3 CAST Ellen McDonagh gene: CAST was added
gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
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 616295
Ichthyosis and erythrokeratoderma v0.3 CARD14 Ellen McDonagh gene: CARD14 was added
gene: CARD14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 AQP5 Ellen McDonagh gene: AQP5 was added
gene: AQP5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AQP5 were set to 23830519; 27255181; 23867895
Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma, Bothnian type, 600231
Ichthyosis and erythrokeratoderma v0.3 ALOXE3 Ellen McDonagh gene: ALOXE3 was added
gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v0.3 ALOX12B Ellen McDonagh gene: ALOX12B was added
gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617
Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ABCA12 Ellen McDonagh gene: ABCA12 was added
gene: ABCA12 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277
Ichthyosis and erythrokeratoderma v0.3 AAGAB Ellen McDonagh gene: AAGAB was added
gene: AAGAB was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AAGAB were set to 23563198; 24289292; 23000146; 23064416
Phenotypes for gene: AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma
Ichthyosis and erythrokeratoderma v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Ichthyosis and erythrokeratoderma v0.0 Ellen McDonagh Added Panel Ichthyosis and erythrokeratoderma
Set panel types to: GMS Rare Disease