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| Hair disorders v0.81 | KRT32 |
Bryony Thompson gene: KRT32 was added gene: KRT32 was added to Hair disorders. Sources: Literature Mode of inheritance for gene: KRT32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT32 were set to 40814173 Phenotypes for gene: KRT32 were set to loose anagen syndrome MONDO:0010908 Review for gene: KRT32 was set to RED Added comment: A single family with loose anagen hair syndrome co-segregating (c.296C>T; p.Thr99Ile) in a large family; however, the AF in the European population is 0.3% in gnomAD v4.1 (6 homozygotes), which is higher than expected for a dominant condition and it would be expected that this phenotype has been reported in association with the variant/gene previously. In vitro functional assay showing the variant alters interaction with KRT82; however, only WT & the variant were assessed (no positive control). Sources: Literature |
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| Hair disorders v0.77 | ARHGAP36 |
Zornitza Stark changed review comment from: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. Sources: Expert Review; to: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. At least 9 families reported but AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. Sources: Expert Review |
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| Hair disorders v0.77 | ARHGAP36 | Zornitza Stark edited their review of gene: ARHGAP36: Changed publications: 35986704, 40015599; Changed phenotypes: Bazex-Dupre-Christol syndrome, MIM# 301845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.77 | ARHGAP36 |
Zornitza Stark changed review comment from: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. Sources: Expert Review; to: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. Sources: Expert Review |
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| Hair disorders v0.76 | ARHGAP36 |
Zornitza Stark gene: ARHGAP36 was added gene: ARHGAP36 was added to Hair disorders. Sources: Expert Review SV/CNV, regulatory region tags were added to gene: ARHGAP36. Mode of inheritance for gene: ARHGAP36 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: ARHGAP36 were set to Bazex-Dupre-Christol syndrome, MIM# 301845 Mode of pathogenicity for gene: ARHGAP36 was set to Other Review for gene: ARHGAP36 was set to AMBER Added comment: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. Sources: Expert Review |
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| Hair disorders v0.75 | HRURF | Zornitza Stark Marked gene: HRURF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.75 | HRURF | Zornitza Stark Gene: hrurf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.75 | HRURF | Zornitza Stark Classified gene: HRURF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.75 | HRURF | Zornitza Stark Gene: hrurf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.74 | HRURF |
Zornitza Stark gene: HRURF was added gene: HRURF was added to Hair disorders. Sources: Literature Mode of inheritance for gene: HRURF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRURF were set to 39872230; 40433810; 37012647; 28406533; 26269244; 24961381 Phenotypes for gene: HRURF were set to Hypotrichosis 4, MIM# 146550 Review for gene: HRURF was set to GREEN Added comment: More than 10 unrelated individuals reported. Sources: Literature |
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| Hair disorders v0.73 | KRT83 | Zornitza Stark Phenotypes for gene: KRT83 were changed from Monilethrix, 158000 to Monilethrix, MIM#621170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.72 | KRT83 | Zornitza Stark edited their review of gene: KRT83: Changed phenotypes: Monilethrix , MIM#621170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.72 | KRT81 | Zornitza Stark Phenotypes for gene: KRT81 were changed from Monilethrix, MIM# 158000 to Monilethrix, MIM# 621169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.71 | KRT81 | Zornitza Stark edited their review of gene: KRT81: Changed phenotypes: Monilethrix, MIM# 621169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.55 | KRT81 | Zornitza Stark Phenotypes for gene: KRT81 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.53 | KRT81 | Zornitza Stark reviewed gene: KRT81: Rating: GREEN; Mode of pathogenicity: None; Publications: 9402962, 22628999; Phenotypes: Monilethrix, MIM# 158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.51 | KRT83 | Zornitza Stark reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 15744029, 25557232; Phenotypes: Monilethrix , MIM#158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.51 | KRT86 | Zornitza Stark Phenotypes for gene: KRT86 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.50 | KRT86 | Zornitza Stark reviewed gene: KRT86: Rating: GREEN; Mode of pathogenicity: None; Publications: 9241275; Phenotypes: Monilethrix, MIM# 158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.50 | HR | Zornitza Stark Marked gene: HR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.50 | HR | Zornitza Stark Gene: hr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.50 | HR | Zornitza Stark Phenotypes for gene: HR were changed from Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.49 | HR | Zornitza Stark Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.48 | HR | Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.37 | SREBF1 |
Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Hair disorders. Sources: Expert Review Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 32497488; 31790666; 32902915 Phenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN 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. 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: Expert Review |
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| Hair disorders v0.0 | KRT83 |
Bryony Thompson gene: KRT83 was added gene: KRT83 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT83 were set to 31332722 Phenotypes for gene: KRT83 were set to Monilethrix, 158000 |
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| Hair disorders v0.0 | KRT86 |
Bryony Thompson gene: KRT86 was added gene: KRT86 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT86 were set to 31332722 Phenotypes for gene: KRT86 were set to Monilethrix, 158000 |
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| Hair disorders v0.0 | KRT81 |
Bryony Thompson gene: KRT81 was added gene: KRT81 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT81 were set to 31332722 Phenotypes for gene: KRT81 were set to Monilethrix, 158000 |
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| Hair disorders v0.0 | HR |
Bryony Thompson gene: HR was added gene: HR was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HR were set to 31332722 Phenotypes for gene: HR were set to Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 |
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