PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
221 actions
Hair disorders v0.70 HEPHL1 Ain Roesley Marked gene: HEPHL1 as ready
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.70 HEPHL1 Ain Roesley Classified gene: HEPHL1 as Red List (low evidence)
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.69 HEPHL1 Naomi Baker gene: HEPHL1 was added
gene: HEPHL1 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEPHL1 were set to PMID: 31125343; 31293895
Phenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990)
Review for gene: HEPHL1 was set to RED
Added comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype.

PMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant ( frame shifting single base insertion) in Hephl1.
Sources: Literature
Hair disorders v0.69 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Hair disorders v0.69 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Hair disorders v0.69 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Hair disorders v0.69 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Hair disorders v0.68 MBTPS2 Kaitlyn Dianna Weldon gene: MBTPS2 was added
gene: MBTPS2 was added to Hair disorders. Sources: Other
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 21600032
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MONDO:0100213
Penetrance for gene: MBTPS2 were set to unknown
Review for gene: MBTPS2 was set to GREEN
Added comment: This is a well established hair disorder gene.
Sources: Other
Hair disorders v0.68 CST6 Zornitza Stark Publications for gene: CST6 were set to 30425301; 12393798
Hair disorders v0.67 CST6 Zornitza Stark reviewed gene: CST6: Rating: AMBER; Mode of pathogenicity: None; Publications: 36371786; Phenotypes: Ectodermal dysplasia 15, hypohidrotic/hair type, 618535; Mode of inheritance: None
Hair disorders v0.67 Zornitza Stark HPO terms changed from to Abnormal hair morphology, HP:0001595
List of related panels changed from to Abnormal hair morphology; HP:0001595
Hair disorders v0.66 C3orf52 Zornitza Stark Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177
Hair disorders v0.65 C3orf52 Zornitza Stark edited their review of gene: C3orf52: Changed phenotypes: Hypotrichosis-15, MIM#620177
Hair disorders v0.64 ASL Zornitza Stark Marked gene: ASL as ready
Hair disorders v0.64 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Hair disorders v0.64 ASL Zornitza Stark Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Hair disorders v0.63 ASL Zornitza Stark Publications for gene: ASL were set to 31332722
Hair disorders v0.62 ASL Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.
Sources: Expert list; to: Trichorrhexis nodosa; dry brittle hair.
Sources: Expert list
Hair disorders v0.62 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Hair disorders v0.62 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hair disorders v0.62 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hair disorders v0.62 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 31332722
Hair disorders v0.61 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Hair disorders v0.61 APCDD1 Elena Savva reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hair disorders v0.61 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Hair disorders v0.61 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Hair disorders v0.61 FAM111B Bryony Thompson Classified gene: FAM111B as Green List (high evidence)
Hair disorders v0.61 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Hair disorders v0.60 FAM111B Bryony Thompson gene: FAM111B was added
gene: FAM111B was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236
Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mode of pathogenicity for gene: FAM111B was set to Other
Review for gene: FAM111B was set to GREEN
gene: FAM111B was marked as current diagnostic
Added comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Hypotrichosis with sparse scalp hair, sparse or absent eyelashes and/or eyebrows is a prominent feature of the condition. Mechanism of disease is unknown, but is expected to be dominant-negative effect.
Sources: Literature
Hair disorders v0.58 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Hair disorders v0.58 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.58 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from Hypotrichosis 3, 613981 to Hypotrichosis 3 , MIM# 613981; Woolly hair, autosomal dominant, MIM# 194300
Hair disorders v0.57 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Hair disorders v0.56 KRT74 Zornitza Stark Classified gene: KRT74 as Amber List (moderate evidence)
Hair disorders v0.56 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.55 KRT74 Zornitza Stark reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 21188418, 20346438, 21188418; Phenotypes: Hypotrichosis 3 , MIM# 613981, Woolly hair, autosomal dominant, MIM# 194300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.55 KRT81 Zornitza Stark Marked gene: KRT81 as ready
Hair disorders v0.55 KRT81 Zornitza Stark Gene: krt81 has been classified as Green List (High Evidence).
Hair disorders v0.55 KRT81 Zornitza Stark Phenotypes for gene: KRT81 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000
Hair disorders v0.54 KRT81 Zornitza Stark Publications for gene: KRT81 were set to 31332722
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 v0.53 KRT83 Zornitza Stark Publications for gene: KRT83 were set to 31332722
Hair disorders v0.52 KRT83 Zornitza Stark Marked gene: KRT83 as ready
Hair disorders v0.52 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.52 KRT83 Zornitza Stark Classified gene: KRT83 as Amber List (moderate evidence)
Hair disorders v0.52 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
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 Marked gene: KRT86 as ready
Hair disorders v0.51 KRT86 Zornitza Stark Gene: krt86 has been classified as Green List (High Evidence).
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 v0.48 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.48 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.47 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Hair disorders v0.46 SNRPE Zornitza Stark Classified gene: SNRPE as Green List (high evidence)
Hair disorders v0.46 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Hair disorders v0.45 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.45 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Hair disorders v0.45 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.45 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Hair disorders v0.44 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Hair disorders v0.44 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.43 GTF2E2 Zornitza Stark reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973399; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.43 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Hair disorders v0.43 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Hair disorders v0.43 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 to Trichohepatoenteric syndrome 1, MIM#222470
Hair disorders v0.42 TTC37 Zornitza Stark Classified gene: TTC37 as Green List (high evidence)
Hair disorders v0.42 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Hair disorders v0.41 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Hair disorders v0.41 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Hair disorders v0.41 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 to Trichohepatoenteric syndrome 2, MIM#614602
Hair disorders v0.40 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Hair disorders v0.40 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Hair disorders v0.39 TTC37 Chris Richmond gene: TTC37 was added
gene: TTC37 was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 20176027; 17318842
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1
Penetrance for gene: TTC37 were set to unknown
Review for gene: TTC37 was set to GREEN
gene: TTC37 was marked as current diagnostic
Added comment: Sources: Expert Review
Hair disorders v0.39 SKIV2L Chris Richmond gene: SKIV2L was added
gene: SKIV2L was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 18982349; 18982349; 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2
Penetrance for gene: SKIV2L were set to unknown
Review for gene: SKIV2L was set to GREEN
gene: SKIV2L was marked as current diagnostic
Added comment: Sources: Expert Review
Hair disorders v0.39 RNF113A Bryony Thompson edited their review of gene: RNF113A: Changed publications: 25612912, 31880405, 31793730
Hair disorders v0.39 RNF113A Bryony Thompson changed review comment from: 3 unrelated families with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.; to: 5 families with 3 different truncating variants, with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.
Hair disorders v0.39 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hair disorders v0.38 SREBF1 Zornitza Stark Marked gene: SREBF1 as ready
Hair disorders v0.38 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
Hair disorders v0.38 SREBF1 Zornitza Stark Classified gene: SREBF1 as Green List (high evidence)
Hair disorders v0.38 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
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 v0.36 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Hair disorders v0.36 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.36 C3orf52 Chirag Patel changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel Classified gene: C3orf52 as Amber List (moderate evidence)
Hair disorders v0.36 C3orf52 Chirag Patel Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.35 C3orf52 Chirag Patel gene: C3orf52 was added
gene: C3orf52 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to PMID: 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
gene: C3orf52 was marked as current diagnostic
Added comment: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature
Hair disorders v0.34 HOXC13 Bryony Thompson Marked gene: HOXC13 as ready
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.34 HOXC13 Bryony Thompson Classified gene: HOXC13 as Green List (high evidence)
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.33 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXC13 were set to 23063621; 23315978; 29278420
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931
Review for gene: HOXC13 was set to GREEN
Added comment: 4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype.
Sources: Literature
Hair disorders v0.32 KREMEN1 Bryony Thompson Marked gene: KREMEN1 as ready
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.32 KREMEN1 Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence)
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.31 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303; 27550540
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392
Review for gene: KREMEN1 was set to AMBER
Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Hair disorders v0.30 TSPEAR Bryony Thompson Marked gene: TSPEAR as ready
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.30 TSPEAR Bryony Thompson Classified gene: TSPEAR as Green List (high evidence)
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.29 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180
Review for gene: TSPEAR was set to GREEN
Added comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays.
Sources: Expert list
Hair disorders v0.28 KRT85 Bryony Thompson Classified gene: KRT85 as Green List (high evidence)
Hair disorders v0.28 KRT85 Bryony Thompson Gene: krt85 has been classified as Green List (High Evidence).
Hair disorders v0.27 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT85 were set to 16525032; 19865094; 31273852
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032
Review for gene: KRT85 was set to GREEN
Added comment: 4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition.
Sources: Expert list
Hair disorders v0.26 CST6 Bryony Thompson Marked gene: CST6 as ready
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.26 CST6 Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence)
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.25 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301; 12393798
Phenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Review for gene: CST6 was set to AMBER
Added comment: A single family reported with hypotrichosis and a supporting null mouse model
Sources: Expert list
Hair disorders v0.24 KDF1 Bryony Thompson Marked gene: KDF1 as ready
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.24 KDF1 Bryony Thompson Classified gene: KDF1 as Amber List (moderate evidence)
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.23 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDF1 were set to 27838789; 24075906
Phenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Review for gene: KDF1 was set to AMBER
Added comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model.
Sources: Expert list
Hair disorders v0.22 RMRP Bryony Thompson Marked gene: RMRP as ready
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.22 RMRP Bryony Thompson Classified gene: RMRP as Green List (high evidence)
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.21 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 16838329; 11207361
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia MIM#250250
Review for gene: RMRP was set to GREEN
Added comment: Well-established cause of a hair abnormality
Sources: Expert list
Hair disorders v0.20 KRT25 Bryony Thompson Classified gene: KRT25 as Green List (high evidence)
Hair disorders v0.20 KRT25 Bryony Thompson Gene: krt25 has been classified as Green List (High Evidence).
Hair disorders v0.19 KRT25 Bryony Thompson gene: KRT25 was added
gene: KRT25 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683
Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760
Review for gene: KRT25 was set to GREEN
Added comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models.
Sources: Expert list
Hair disorders v0.18 RPL21 Bryony Thompson Marked gene: RPL21 as ready
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.18 RPL21 Bryony Thompson Classified gene: RPL21 as Red List (low evidence)
Hair disorders v0.18 RPL21 Bryony Thompson Added comment: Comment on list classification: No supporting publications since the original in 2011.
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.17 RPL21 Bryony Thompson gene: RPL21 was added
gene: RPL21 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885
Review for gene: RPL21 was set to AMBER
Added comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed.
Sources: NHS GMS
Hair disorders v0.16 DSC3 Bryony Thompson Marked gene: DSC3 as ready
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.16 DSC3 Bryony Thompson Classified gene: DSC3 as Amber List (moderate evidence)
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.15 DSC3 Bryony Thompson gene: DSC3 was added
gene: DSC3 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 31790667; 18682494
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102
Review for gene: DSC3 was set to AMBER
Added comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
Sources: NHS GMS
Hair disorders v0.14 SNRPE Bryony Thompson Marked gene: SNRPE as ready
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.14 SNRPE Bryony Thompson Classified gene: SNRPE as Amber List (moderate evidence)
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.13 SNRPE Bryony Thompson gene: SNRPE was added
gene: SNRPE was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNRPE were set to 23246290
Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059
Review for gene: SNRPE was set to AMBER
Added comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays.
Sources: NHS GMS
Hair disorders v0.12 TGM3 Bryony Thompson Marked gene: TGM3 as ready
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.12 TGM3 Bryony Thompson Classified gene: TGM3 as Amber List (moderate evidence)
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.11 TGM3 Bryony Thompson reviewed gene: TGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866708, 26194162; Phenotypes: Uncombable hair syndrome 2 MIM#617251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.11 TCHH Bryony Thompson Marked gene: TCHH as ready
Hair disorders v0.11 TCHH Bryony Thompson Gene: tchh has been classified as Red List (Low Evidence).
Hair disorders v0.11 TCHH Bryony Thompson reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.11 KRT74 Bryony Thompson Deleted their review
Hair disorders v0.11 BCS1L Bryony Thompson Marked gene: BCS1L as ready
Hair disorders v0.11 BCS1L Bryony Thompson Gene: bcs1l has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Marked gene: LSS as ready
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.9 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.8 KRT71 Bryony Thompson Marked gene: KRT71 as ready
Hair disorders v0.8 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.8 KRT71 Bryony Thompson Publications for gene: KRT71 were set to 31332722
Hair disorders v0.7 KRT71 Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence)
Hair disorders v0.7 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.6 KRT71 Bryony Thompson reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: None; Publications: 14632181, 22592156, 19713490; Phenotypes: Hypotrichosis 13 MIM#615896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.6 GTF2H5 Bryony Thompson Marked gene: GTF2H5 as ready
Hair disorders v0.6 GTF2H5 Bryony Thompson Gene: gtf2h5 has been classified as Green List (High Evidence).
Hair disorders v0.6 GTF2H5 Bryony Thompson Publications for gene: GTF2H5 were set to 31332722
Hair disorders v0.5 GTF2H5 Bryony Thompson reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28833524, 15220921, 8213812, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.5 RNF113A Bryony Thompson Marked gene: RNF113A as ready
Hair disorders v0.5 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Hair disorders v0.5 TARS Bryony Thompson Marked gene: TARS as ready
Hair disorders v0.5 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Hair disorders v0.5 TARS Bryony Thompson Publications for gene: TARS were set to 31332722
Hair disorders v0.4 TARS Bryony Thompson Classified gene: TARS as Amber List (moderate evidence)
Hair disorders v0.4 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Hair disorders v0.3 RNF113A Bryony Thompson reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hair disorders v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hair disorders v0.0 TRPS1 Bryony Thompson gene: TRPS1 was added
gene: TRPS1 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPS1 were set to 31332722
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III, 190351; Trichorhinophalangeal syndrome, type I, 190350
Hair disorders v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to 31332722
Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Hair disorders v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 31332722
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500
Hair disorders v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WNT10A were set to 31332722
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia
Hair disorders v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDARADD were set to 31332722
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic; Ectodermal dysplasia, anhidrotic
Hair disorders v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDAR were set to 31332722
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Hair disorders v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EDA were set to 31332722
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Hair disorders v0.0 TCHH Bryony Thompson gene: TCHH was added
gene: TCHH was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TCHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCHH were set to 31332722
Phenotypes for gene: TCHH were set to ?Uncombable hair syndrome 3, 617252
Hair disorders v0.0 TGM3 Bryony Thompson gene: TGM3 was added
gene: TGM3 was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM3 were set to 31332722
Phenotypes for gene: TGM3 were set to ?Uncombable hair syndrome 2, 617251
Hair disorders v0.0 PADI3 Bryony Thompson gene: PADI3 was added
gene: PADI3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PADI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PADI3 were set to 31332722
Phenotypes for gene: PADI3 were set to Uncombable hair syndrome, 191480
Hair disorders v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 31332722
Phenotypes for gene: JUP were set to Naxos disease, 601214
Hair disorders v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 31332722
Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome, 607655; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
Hair disorders v0.0 KRT71 Bryony Thompson gene: KRT71 was added
gene: KRT71 was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT71 were set to 31332722
Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896
Hair disorders v0.0 TARS Bryony Thompson gene: TARS was added
gene: TARS was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31332722
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive, 618546
Hair disorders v0.0 GTF2E2 Bryony Thompson gene: GTF2E2 was added
gene: GTF2E2 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to 31332722
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943
Hair disorders v0.0 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 31332722
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, 616390
Hair disorders v0.0 RNF113A Bryony Thompson gene: RNF113A was added
gene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RNF113A 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: RNF113A were set to 31332722
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953
Hair disorders v0.0 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 31332722
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395
Hair disorders v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPLKIP were set to 31332722
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050
Hair disorders v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 31332722
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive, 601675
Hair disorders v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 31332722
Phenotypes for gene: ATP7A were set to Menkes disease, 309400
Hair disorders v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 31332722
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, 262000
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 SPINK5 Bryony Thompson gene: SPINK5 was added
gene: SPINK5 was added to Hair disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 31332722
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500
Hair disorders v0.0 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 31332722
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900
Hair disorders v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 31332722
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Hair disorders v0.0 LPAR6 Bryony Thompson gene: LPAR6 was added
gene: LPAR6 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPAR6 were set to Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; Hypotrichosis 8, 278150
Hair disorders v0.0 LIPH Bryony Thompson gene: LIPH was added
gene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPH were set to 31332722
Phenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379
Hair disorders v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT74 were set to Hypotrichosis 3, 613981
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
Hair disorders v0.0 DSG4 Bryony Thompson gene: DSG4 was added
gene: DSG4 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG4 were set to Hypotrichosis 6, 607903
Hair disorders v0.0 CDSN Bryony Thompson gene: CDSN was added
gene: CDSN was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDSN were set to 31332722
Phenotypes for gene: CDSN were set to Hypotrichosis 2, 146520
Hair disorders v0.0 APCDD1 Bryony Thompson gene: APCDD1 was added
gene: APCDD1 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APCDD1 were set to Hypotrichosis 1, 605389
Hair disorders v0.0 Bryony Thompson Added panel Hair disorders