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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
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
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
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
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
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