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| 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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