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Ichthyosis v1.11 SREBF2 Zornitza Stark Marked gene: SREBF2 as ready
Ichthyosis v1.11 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.11 SREBF2 Zornitza Stark Classified gene: SREBF2 as Amber List (moderate evidence)
Ichthyosis v1.11 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.10 SREBF2 Zornitza Stark gene: SREBF2 was added
gene: SREBF2 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF2 were set to 38847193
Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
Review for gene: SREBF2 was set to AMBER
Added comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data.
Sources: Literature
Ichthyosis v1.9 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Ichthyosis v1.8 DBR1 Zornitza Stark reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v1.8 KLK11 Zornitza Stark Marked gene: KLK11 as ready
Ichthyosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis v1.8 KLK11 Zornitza Stark Classified gene: KLK11 as Green List (high evidence)
Ichthyosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis v1.7 KLK11 Zornitza Stark gene: KLK11 was added
gene: KLK11 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLK11 were set to 36689511; 37212630
Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507
Review for gene: KLK11 was set to GREEN
Added comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: Literature
Ichthyosis v1.6 DBR1 Zornitza Stark Tag founder tag was added to gene: DBR1.
Ichthyosis v1.6 DBR1 Seb Lunke Marked gene: DBR1 as ready
Ichthyosis v1.6 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.6 DBR1 Seb Lunke Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related
Ichthyosis v1.5 DBR1 Chern Lim Deleted their comment
Ichthyosis v1.5 DBR1 Chern Lim edited their review of gene: DBR1: 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.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Ichthyosis v1.5 DBR1 Seb Lunke Classified gene: DBR1 as Amber List (moderate evidence)
Ichthyosis v1.5 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.4 DBR1 Chern Lim gene: DBR1 was added
gene: DBR1 was added to Ichthyosis. 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 Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life
Review for gene: DBR1 was set to AMBER
gene: DBR1 was marked as current diagnostic
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- 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 v1.4 PRSS8 Elena Savva Classified gene: PRSS8 as Amber List (moderate evidence)
Ichthyosis v1.4 PRSS8 Elena Savva Gene: prss8 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.3 PRSS8 Elena Savva Marked gene: PRSS8 as ready
Ichthyosis v1.3 PRSS8 Elena Savva Gene: prss8 has been removed from the panel.
Ichthyosis v1.3 PRSS8 Lucy Spencer gene: PRSS8 was added
gene: PRSS8 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: PRSS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRSS8 were set to 36715754
Phenotypes for gene: PRSS8 were set to ichthyosis MONDO:0019269, PRSS8-related
Review for gene: PRSS8 was set to AMBER
Added comment: PMID: 36715754
1 family with 3 affected sons with congenital ichthyosis, consanguineous parents. All 3 affected members are homozygous for a canonical splice in PRSS8, quantitative RT-PCR showed a significant reduction in normal PRSS8 transcript.

A second family with 4 affected members (proband and 3 cousins) with ichthyosis (3 also had autism), also consanguineous. Only the proband was tested who is homozygous for a missense in PTSS8. However this patient also had a TAAR1 missense (no disease association, but the paper suggests this could be responsible for the autism phenotype- KO mice have abnormal learning behaviour).
Sources: Literature
Ichthyosis v1.3 Zornitza Stark HPO terms changed from to Ichthyosis, HP:0008064
List of related panels changed from to Ichthyosis; HP:0008064
Ichthyosis v1.2 LOR Zornitza Stark Publications for gene: LOR were set to 8673107; 9326398; 9326323; 25234742; 25142840
Ichthyosis v1.1 LOR Teresa Zhao reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8673107, 11121146, 11038186; Phenotypes: Vohwinkel syndrome with ichthyosis (MIM#604117); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v1.1 ALOX12B Zornitza Stark edited their review of gene: ALOX12B: Changed publications: 16116617, 11773004
Ichthyosis v1.1 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834); MONDO:0014793
Ichthyosis v1.0 Zornitza Stark promoted panel to version 1.0
Ichthyosis v0.123 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Ichthyosis v0.123 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Ichthyosis v0.123 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Ichthyosis v0.122 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Ichthyosis v0.121 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.120 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.120 STS Zornitza Stark edited their review of gene: STS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis v0.120 STS Zornitza Stark Marked gene: STS as ready
Ichthyosis v0.120 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Ichthyosis v0.120 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked, MIM# 308100
Ichthyosis v0.119 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis v0.118 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Ichthyosis v0.118 STS Zornitza Stark reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.118 LOR Zornitza Stark Marked gene: LOR as ready
Ichthyosis v0.118 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Ichthyosis v0.118 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Ichthyosis v0.117 LOR Zornitza Stark Publications for gene: LOR were set to
Ichthyosis v0.116 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.115 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.115 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Ichthyosis v0.115 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Ichthyosis v0.115 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165
Ichthyosis v0.114 KRT10 Zornitza Stark Mode of inheritance for gene: KRT10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.113 KRT10 Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis with confetti, MIM# 609165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.113 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Ichthyosis v0.113 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Ichthyosis v0.113 KRT1 Zornitza Stark Phenotypes for gene: KRT1 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Ichthyosis v0.112 KRT1 Zornitza Stark Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.111 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.111 CYP4F22 Zornitza Stark edited their review of gene: CYP4F22: Changed phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis v0.111 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Ichthyosis v0.111 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Ichthyosis v0.111 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis v0.110 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Ichthyosis v0.109 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.108 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: chthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.108 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Ichthyosis v0.108 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Ichthyosis v0.108 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Ichthyosis v0.107 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Ichthyosis v0.106 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.105 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.105 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Ichthyosis v0.105 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Ichthyosis v0.105 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Ichthyosis v0.104 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Ichthyosis v0.103 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.102 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004]; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.102 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221
Ichthyosis v0.101 PIGL Zornitza Stark Publications for gene: PIGL were set to 22444671; 31535386
Ichthyosis v0.100 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Ichthyosis v0.100 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.100 SREBF1 Zornitza Stark Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310
Ichthyosis v0.99 SREBF1 Zornitza Stark Publications for gene: SREBF1 were set to 32497488
Ichthyosis v0.98 SREBF1 Zornitza Stark changed review comment from: 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; to: IFAP phenotype: 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 v0.98 SREBF1 Zornitza Stark edited their review of gene: SREBF1: Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.; Changed publications: 32497488, 31790666, 32902915; Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016, Mucoepithelial dysplasia, hereditary, MIM#158310
Ichthyosis v0.98 SREBF1 Zornitza Stark Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
Ichthyosis v0.97 SREBF1 Zornitza Stark edited their review of gene: SREBF1: Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
Ichthyosis v0.97 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.97 ASPRV1 Zornitza Stark Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, MIM# 146750; palmoplantar keratoderma; lamellar ichthyosis
Ichthyosis v0.96 ASPRV1 Zornitza Stark edited their review of gene: ASPRV1: Changed rating: GREEN; Changed phenotypes: Ichthyosis, lamellar, autosomal dominant, MIM# 146750; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.96 ASPRV1 Zornitza Stark reviewed gene: ASPRV1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, lamellar, autosomal dominant, M 146750; Mode of inheritance: None
Ichthyosis v0.96 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Ichthyosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis v0.96 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Ichthyosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis v0.95 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Ichthyosis v0.95 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Ichthyosis v0.95 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Ichthyosis v0.94 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Ichthyosis v0.93 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.92 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.92 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Ichthyosis v0.92 MSMO1 Zornitza Stark Added comment: Comment when marking as ready: Possible phenotypic overlap but not clear.
Ichthyosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.92 MSMO1 Zornitza Stark Classified gene: MSMO1 as Amber List (moderate evidence)
Ichthyosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.91 PIGL Zornitza Stark Marked gene: PIGL as ready
Ichthyosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis v0.91 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Ichthyosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis v0.90 AP1S1 Paul De Fazio changed review comment from: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature; to: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3.
Sources: Literature
Ichthyosis v0.90 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature
Ichthyosis v0.90 MSMO1 Paul De Fazio changed review comment from: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature; to: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.

There also doesn't appear to be anything published more recently.
Sources: Literature
Ichthyosis v0.90 MSMO1 Paul De Fazio gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 24144731; 21285510
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
Review for gene: MSMO1 was set to AMBER
gene: MSMO1 was marked as current diagnostic
Added comment: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature
Ichthyosis v0.90 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Ichthyosis v0.90 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Ichthyosis v0.90 KRT2 Zornitza Stark Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) , MIM#146800
Ichthyosis v0.89 KRT2 Zornitza Stark Publications for gene: KRT2 were set to
Ichthyosis v0.88 KRT2 Zornitza Stark Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.87 PIGL Paul De Fazio gene: PIGL was added
gene: PIGL was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386
Phenotypes for gene: PIGL were set to CHIME syndrome (MIM#280000)
Review for gene: PIGL was set to GREEN
gene: PIGL was marked as current diagnostic
Added comment: Early onset migratory ichthyosiform dermatosis is characteristic of this syndrome (the 'I' in 'CHIME'). Also called Zunich neuroectodermal syndrome.

In 6 previously reported unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (PMID 22444671) identified compound heterozygosity for 2 mutations in the PIGL gene. None of the variants have homozygotes in gnomAD.

A homozygous variant has also been reported in affected individuals from one family more recently (e.g. PMID 31535386).
Sources: Literature
Ichthyosis v0.87 KRT2 Ain Roesley reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v0.87 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Ichthyosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Ichthyosis v0.87 SNAP29 Zornitza Stark Classified gene: SNAP29 as Green List (high evidence)
Ichthyosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Ichthyosis v0.86 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Ichthyosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Ichthyosis v0.86 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Ichthyosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Ichthyosis v0.85 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Ichthyosis v0.85 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Ichthyosis v0.85 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Ichthyosis v0.84 ABCA12 Zornitza Stark Publications for gene: ABCA12 were set to
Ichthyosis v0.83 ABCA12 Zornitza Stark Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.82 SNAP29 Paul De Fazio edited their review of gene: SNAP29: Changed rating: GREEN; Changed publications: 15968592, 21073448, 25958742, 29051910
Ichthyosis v0.82 SNAP29 Paul De Fazio gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 15968592; 21073448
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Review for gene: SNAP29 was set to AMBER
gene: SNAP29 was marked as current diagnostic
Added comment: At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.

PMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.

PMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).

PMID 25958742: describes another Arab family with a homozygous frameshift variant.

PMID 29051910: one more American Jordanian family with a homozygous nonsense variant.
Sources: Literature
Ichthyosis v0.82 ELOVL4 Ain Roesley gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072; 24571530
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Penetrance for gene: ELOVL4 were set to unknown
Review for gene: ELOVL4 was set to GREEN
Added comment: PMID: 22100072;
- 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities
> homozygous for a nonsense variant

- 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay
> homozygous for a frameshift

PMID: 24571530;
- 1x consanguineous family with 3 affecteds with congenital ichthyosis
- Intellectual disability and spastic quadriplegia were observed only in 1 of the patients
> homozygous for a nonsense
Sources: Literature
Ichthyosis v0.82 ABCA12 Ain Roesley reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.82 SREBF1 Zornitza Stark Marked gene: SREBF1 as ready
Ichthyosis v0.82 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
Ichthyosis v0.82 SREBF1 Zornitza Stark Classified gene: SREBF1 as Green List (high evidence)
Ichthyosis v0.82 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
Ichthyosis v0.81 SREBF1 Zornitza Stark gene: SREBF1 was added
gene: SREBF1 was added to Ichthyosis. 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 v0.80 ASPRV1 Zornitza Stark Marked gene: ASPRV1 as ready
Ichthyosis v0.80 ASPRV1 Zornitza Stark Gene: asprv1 has been classified as Green List (High Evidence).
Ichthyosis v0.80 ASPRV1 Zornitza Stark Classified gene: ASPRV1 as Green List (high evidence)
Ichthyosis v0.80 ASPRV1 Zornitza Stark Gene: asprv1 has been classified as Green List (High Evidence).
Ichthyosis v0.79 ASPRV1 Ee Ming Wong gene: ASPRV1 was added
gene: ASPRV1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASPRV1 were set to PMID: 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 v0.79 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Ichthyosis v0.79 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Green List (High Evidence).
Ichthyosis v0.79 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Ichthyosis v0.78 ALOXE3 Zornitza Stark Publications for gene: ALOXE3 were set to
Ichthyosis v0.77 ALOXE3 Zornitza Stark Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.76 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.76 FLG Zornitza Stark Marked gene: FLG as ready
Ichthyosis v0.76 FLG Zornitza Stark Gene: flg has been classified as Green List (High Evidence).
Ichthyosis v0.76 FLG Zornitza Stark Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris 146700; {Dermatitis, atopic, susceptibility to, 2} 605803
Ichthyosis v0.75 FLG Zornitza Stark Publications for gene: FLG were set to
Ichthyosis v0.74 FLG Zornitza Stark Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis v0.73 FLG Elena Savva reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17291859, 30681730; Phenotypes: Ichthyosis vulgaris 146700, {Dermatitis, atopic, susceptibility to, 2} 605803; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Ichthyosis v0.73 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Ichthyosis v0.73 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Ichthyosis v0.73 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Ichthyosis v0.72 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Ichthyosis v0.71 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.70 NIPAL4 Michelle Torres reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17557927; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 612281 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ichthyosis v0.69 LIPN Zornitza Stark Marked gene: LIPN as ready
Ichthyosis v0.69 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis v0.69 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Ichthyosis v0.68 LIPN Zornitza Stark Publications for gene: LIPN were set to
Ichthyosis v0.67 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.66 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Ichthyosis v0.66 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis v0.65 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.65 EBP Zornitza Stark Marked gene: EBP as ready
Ichthyosis v0.65 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis v0.65 CLDN1 Zornitza Stark Marked gene: CLDN1 as ready
Ichthyosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis v0.65 CLDN1 Zornitza Stark Classified gene: CLDN1 as Green List (high evidence)
Ichthyosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis v0.64 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Ichthyosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.64 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Amber List (moderate evidence)
Ichthyosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.63 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Ichthyosis v0.63 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Red List (Low Evidence).
Ichthyosis v0.63 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Ichthyosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis v0.63 SUMF1 Zornitza Stark Classified gene: SUMF1 as Green List (high evidence)
Ichthyosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis v0.62 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Ichthyosis v0.62 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Ichthyosis v0.62 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Ichthyosis v0.61 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Ichthyosis v0.60 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.59 ST14 Zornitza Stark Marked gene: ST14 as ready
Ichthyosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis v0.59 ST14 Zornitza Stark Classified gene: ST14 as Green List (high evidence)
Ichthyosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis v0.58 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Ichthyosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis v0.58 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Ichthyosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis v0.57 SLC27A4 Zornitza Stark Marked gene: SLC27A4 as ready
Ichthyosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis v0.57 SLC27A4 Zornitza Stark Classified gene: SLC27A4 as Green List (high evidence)
Ichthyosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 MIM#617115 to Peeling skin syndrome 5 MIM#617115
Ichthyosis v0.56 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Ichthyosis v0.56 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Green List (High Evidence).
Ichthyosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5 MIM#617115
Ichthyosis v0.55 SERPINB8 Zornitza Stark Publications for gene: SERPINB8 were set to
Ichthyosis v0.54 SERPINB8 Zornitza Stark Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.53 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Ichthyosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis v0.53 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Ichthyosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis v0.52 POMP Zornitza Stark Marked gene: POMP as ready
Ichthyosis v0.52 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Ichthyosis v0.52 POMP Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952
Ichthyosis v0.51 POMP Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
Ichthyosis v0.51 POMP Zornitza Stark Publications for gene: POMP were set to
Ichthyosis v0.51 POMP Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.50 PHYH Zornitza Stark Marked gene: PHYH as ready
Ichthyosis v0.50 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Ichthyosis v0.50 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ichthyosis v0.50 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Ichthyosis v0.50 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Ichthyosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis v0.50 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Ichthyosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis v0.49 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Ichthyosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis v0.49 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Ichthyosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis v0.48 KDSR Zornitza Stark Marked gene: KDSR as ready
Ichthyosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.48 KDSR Zornitza Stark Classified gene: KDSR as Amber List (moderate evidence)
Ichthyosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.47 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Ichthyosis v0.47 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis v0.47 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2 MIM#617524
Ichthyosis v0.46 GJB4 Zornitza Stark Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.45 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Ichthyosis v0.45 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis v0.44 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Ichthyosis v0.44 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis v0.44 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1 MIM#133200
Ichthyosis v0.43 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis v0.42 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Ichthyosis v0.42 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis v0.41 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Ichthyosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis v0.41 GJB2 Zornitza Stark Classified gene: GJB2 as Green List (high evidence)
Ichthyosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis v0.40 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Ichthyosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ichthyosis v0.40 ERCC2 Zornitza Stark Classified gene: ERCC2 as Green List (high evidence)
Ichthyosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ichthyosis v0.39 CLDN1 Bryony Thompson gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN1 were set to 12164927; 11889141; 29146216
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Review for gene: CLDN1 was set to GREEN
Added comment: A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier.
Sources: Literature
Ichthyosis v0.38 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 30359777; 24986372
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395
Review for gene: GTF2H5 was set to AMBER
Added comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene.
Sources: Literature
Ichthyosis v0.37 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 9012405; 28913623
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390
Review for gene: ERCC3 was set to RED
Added comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2.
Sources: Literature
Ichthyosis v0.36 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ichthyosis v0.36 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Ichthyosis v0.36 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Ichthyosis v0.35 ELOVL1 Zornitza Stark Publications for gene: ELOVL1 were set to
Ichthyosis v0.34 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.33 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Ichthyosis v0.33 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Ichthyosis v0.33 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Ichthyosis v0.32 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.32 SUMF1 Bryony Thompson gene: SUMF1 was added
gene: SUMF1 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis
Review for gene: SUMF1 was set to GREEN
Added comment: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported.
Sources: Expert list
Ichthyosis v0.31 EBP Zornitza Stark Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant MIM#302960 to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome
Ichthyosis v0.30 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Ichthyosis v0.30 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis v0.29 SULT2B1 Bryony Thompson reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14 MIM#617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.29 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: >3 families with biallelic variants reported.
Sources: Expert list
Ichthyosis v0.28 CSTA Zornitza Stark Marked gene: CSTA as ready
Ichthyosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Ichthyosis v0.28 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Ichthyosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Ichthyosis v0.27 SPINK5 Bryony Thompson gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 10712206; 15590704; 31977080
Phenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500
Review for gene: SPINK5 was set to GREEN
Added comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype.
Sources: Expert list
Ichthyosis v0.26 CDSN Zornitza Stark Marked gene: CDSN as ready
Ichthyosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Ichthyosis v0.26 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Ichthyosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Ichthyosis v0.25 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.24 SLC27A4 Bryony Thompson gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A4 were set to 12697906; 19631310; 31168818
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649
Review for gene: SLC27A4 was set to GREEN
Added comment: >3 families reported
Sources: Expert list
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence)
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Ichthyosis v0.22 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Ichthyosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Ichthyosis v0.22 ABHD5 Zornitza Stark Classified gene: ABHD5 as Green List (high evidence)
Ichthyosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Ichthyosis v0.21 SERPINB8 Bryony Thompson reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.21 SDR9C7 Bryony Thompson gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis. Sources: Expert list
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 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Ichthyosis v0.20 POMP Bryony Thompson reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.20 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 25604618; 9326940
Phenotypes for gene: PHYH were set to Refsum disease MIM#266500
Review for gene: PHYH was set to RED
Added comment: Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature.
Sources: Expert list
Ichthyosis v0.19 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 12522768
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879
Review for gene: PEX7 was set to RED
Added comment: Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants.
Sources: Expert list
Ichthyosis v0.18 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 10710235; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Congenital hemidysplasia with ichthyosiform nevus and limb defects
Review for gene: NSDHL was set to GREEN
Added comment: Ichthyosis is a feature of the syndrome. >3 unrelated families/cases have been reported.
Sources: Expert list
Ichthyosis v0.17 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis. Sources: Expert list
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 19361614; 21426410
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia
Review for gene: MBTPS2 was set to GREEN
Added comment: Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported.
Sources: Expert list
Ichthyosis v0.16 KDSR Bryony Thompson gene: KDSR was added
gene: KDSR was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589
Phenotypes for gene: KDSR were set to Harlequin ichthyosis
Review for gene: KDSR was set to AMBER
Added comment: Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma.
Sources: Expert list
Ichthyosis v0.15 GJB4 Bryony Thompson reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 2 MIM#617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v0.15 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 1 MIM#133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis v0.15 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 11912510
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210
Review for gene: GJB2 was set to GREEN
Added comment: Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis.
Sources: Expert list
Ichthyosis v0.14 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
Review for gene: ERCC2 was set to GREEN
Added comment: Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis
Sources: Expert list
Ichthyosis v0.13 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ichthyosis v0.12 ELOVL1 Bryony Thompson Deleted their comment
Ichthyosis v0.12 ELOVL1 Bryony Thompson edited their review of gene: ELOVL1: Added comment: Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.; Changed publications: 30487246, 29496980, 23689133
Ichthyosis v0.12 ELOVL1 Bryony Thompson reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30487246, 29496980; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Ichthyosis v0.12 CLDN10 Bryony Thompson reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.12 EBP Bryony Thompson gene: EBP was added
gene: EBP was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10391218; 30135486; 25846959
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant MIM#302960
Review for gene: EBP was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition. Mouse model recapitulates phenotype of condition. >3 unrelated cases/families with condition
Sources: Expert list
Ichthyosis v0.11 CSTA Bryony Thompson gene: CSTA was added
gene: CSTA was added to Ichthyosis. 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; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Review for gene: CSTA was set to GREEN
Added comment: Exfoliative ichthyosis is a prominent feature of the condition. >3 unrelated families reported.
Sources: Expert list
Ichthyosis v0.10 CDSN Bryony Thompson gene: CDSN was added
gene: CDSN was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Review for gene: CDSN was set to GREEN
Added comment: At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function.
Sources: Expert list
Ichthyosis v0.9 CASP14 Bryony Thompson gene: CASP14 was added
gene: CASP14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert list
Ichthyosis v0.8 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Review for gene: ALDH3A2 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >30 biallelic variant carriers have been reported
Sources: Expert list
Ichthyosis v0.7 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma
Review for gene: ABHD5 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >80 cases have been reported with biallelic ABHD5 variants.
Sources: Expert list
Ichthyosis v0.6 Zornitza Stark Panel name changed from Ichthyosis_VCGS to Ichthyosis
Panel types changed to Victorian Clinical Genetics Services
Ichthyosis v0.5 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.5 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype. This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Ichthyosis v0.3 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Ichthyosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis v0.3 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Ichthyosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis v0.2 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Ichthyosis v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Ichthyosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Ichthyosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Ichthyosis v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM1 was set to Unknown
Ichthyosis v0.0 SULT2B1 Zornitza Stark gene: SULT2B1 was added
gene: SULT2B1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SULT2B1 was set to Unknown
Ichthyosis v0.0 STS Zornitza Stark gene: STS was added
gene: STS was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STS was set to Unknown
Ichthyosis v0.0 SERPINB8 Zornitza Stark gene: SERPINB8 was added
gene: SERPINB8 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINB8 was set to Unknown
Ichthyosis v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMP was set to Unknown
Ichthyosis v0.0 PNPLA1 Zornitza Stark gene: PNPLA1 was added
gene: PNPLA1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA1 was set to Unknown
Ichthyosis v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPAL4 was set to Unknown
Ichthyosis v0.0 LOR Zornitza Stark gene: LOR was added
gene: LOR was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LOR was set to Unknown
Ichthyosis v0.0 LIPN Zornitza Stark gene: LIPN was added
gene: LIPN was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPN was set to Unknown
Ichthyosis v0.0 KRT2 Zornitza Stark gene: KRT2 was added
gene: KRT2 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT2 was set to Unknown
Ichthyosis v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT10 was set to Unknown
Ichthyosis v0.0 KRT1 Zornitza Stark gene: KRT1 was added
gene: KRT1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT1 was set to Unknown
Ichthyosis v0.0 GJB4 Zornitza Stark gene: GJB4 was added
gene: GJB4 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB4 was set to Unknown
Ichthyosis v0.0 GJB3 Zornitza Stark gene: GJB3 was added
gene: GJB3 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB3 was set to Unknown
Ichthyosis v0.0 FLG Zornitza Stark gene: FLG was added
gene: FLG was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLG was set to Unknown
Ichthyosis v0.0 ELOVL1 Zornitza Stark gene: ELOVL1 was added
gene: ELOVL1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELOVL1 was set to Unknown
Ichthyosis v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP4F22 was set to Unknown
Ichthyosis v0.0 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN10 was set to Unknown
Ichthyosis v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CERS3 was set to Unknown
Ichthyosis v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALOXE3 was set to Unknown
Ichthyosis v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALOX12B was set to Unknown
Ichthyosis v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCA12 was set to Unknown
Ichthyosis v0.0 Zornitza Stark Added panel Ichthyosis_VCGS