PanelApp (stage)
  1. Panels
  2. Hair disorders
Description
This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. 

The conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.
For hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.

The panel was developed and is maintained by RMH and is a consensus panel used by VCGS.
Panel Activity

14 reviewers

  • Chris Richmond (Genetic Health Queensland)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Kaitlyn Dianna Weldon (University of Melbourne)

  • Danielle Ariti (University of Melbourne)

  • Sarah Leigh (Genomics England)

  • Chirag Patel (Genetic Health Queensland)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

55 Entities

54 reviewed, 41 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
Green Green List (high evidence)
ANTXR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • GAPO syndrome, MIM# 230740
Tags
Green Green List (high evidence)
APCDD1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 1, 605389
Tags
Green Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininosuccinic aciduria MIM#207900
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of amino acid metabolism
Tags
  • treatable
Green Green List (high evidence)
ATP7A
3 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Menkes disease, 309400
Tags
  • treatable
Green Green List (high evidence)
BCS1L
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Bjornstad syndrome, 262000
Tags
Green Green List (high evidence)
CDH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Tags
Green Green List (high evidence)
CDSN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 2, 146520
Tags
Green Green List (high evidence)
DSG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypotrichosis 6, 607903
Tags
Green Green List (high evidence)
DSP
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Skin fragility-woolly hair syndrome, 607655
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
Tags
Green Green List (high evidence)
EDA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Tags
Green Green List (high evidence)
EDAR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia, anhidrotic, Hair morphology
Tags
Green Green List (high evidence)
EDARADD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia, hypohidrotic
  • Ectodermal dysplasia, anhidrotic
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 1, photosensitive, 601675
Tags
Green Green List (high evidence)
ERCC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 2, photosensitive, 616390
Tags
Green Green List (high evidence)
FAM111B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Tags
Green Green List (high evidence)
GJB6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
Tags
Green Green List (high evidence)
GTF2H5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, 616395
Tags
Green Green List (high evidence)
HOXC13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type MIM#614931
Tags
Green Green List (high evidence)
HR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500
Tags
Green Green List (high evidence)
JUP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Naxos disease, 601214
Tags
Green Green List (high evidence)
KRT25
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Woolly hair, autosomal recessive 3 MIM#616760
Tags
Green Green List (high evidence)
KRT81
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Monilethrix, MIM# 158000
Tags
Green Green List (high evidence)
KRT85
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type MIM#602032
Tags
Green Green List (high evidence)
KRT86
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Monilethrix, MIM# 158000
Tags
Green Green List (high evidence)
LIPH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
  • Hypotrichosis 7, 604379
Tags
Green Green List (high evidence)
LPAR6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
  • Hypotrichosis 8, 278150
Tags
Green Green List (high evidence)
LSS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome MONDO:0100213
Tags
Green Green List (high evidence)
MPLKIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, 234050
Tags
Green Green List (high evidence)
PADI3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Uncombable hair syndrome, 191480
Tags
Green Green List (high evidence)
RMRP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cartilage-hair hypoplasia MIM#250250
Tags
Green Green List (high evidence)
RNF113A
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 5, nonphotosensitive, 300953
Tags
Green Green List (high evidence)
SKIV2L
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM#614602
Tags
Green Green List (high evidence)
SNRPE
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypotrichosis 11 MIM#615059
Tags
Green Green List (high evidence)
SPINK5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Netherton syndrome, 256500
Tags
Green Green List (high evidence)
SREBF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
  • Mucoepithelial dysplasia, hereditary, MIM#158310
Tags
Green Green List (high evidence)
TP63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Tags
Green Green List (high evidence)
TRPS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichorhinophalangeal syndrome, type III, 190351
  • Trichorhinophalangeal syndrome, type I, 190350
Tags
Green Green List (high evidence)
TSPEAR
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180
Tags
Green Green List (high evidence)
TTC37
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM#222470
Tags
Green Green List (high evidence)
WNT10A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Odontoonychodermal dysplasia
Tags
Amber Amber List (moderate evidence)
C3orf52
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis-15, MIM#620177
Tags
Amber Amber List (moderate evidence)
CST6
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Tags
Amber Amber List (moderate evidence)
DSC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypotrichosis and recurrent skin vesicles MIM#613102
Tags
Amber Amber List (moderate evidence)
GTF2E2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841
Tags
Amber Amber List (moderate evidence)
KDF1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Tags
Amber Amber List (moderate evidence)
KREMEN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type MIM#617392
Tags
Amber Amber List (moderate evidence)
KRT71
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Hypotrichosis 13, 615896
Tags
Amber Amber List (moderate evidence)
KRT74
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Hypotrichosis 3 , MIM# 613981
  • Woolly hair, autosomal dominant, MIM# 194300
Tags
Amber Amber List (moderate evidence)
KRT83
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monilethrix, 158000
Tags
Amber Amber List (moderate evidence)
TARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive, 618546
Tags
Amber Amber List (moderate evidence)
TGM3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Uncombable hair syndrome 2, 617251
Tags
Red Red List (low evidence)
HEPHL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Abnormal hair, joint laxity, and developmental delay (MIM#261990)
Tags
Red Red List (low evidence)
RPL21
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hypotrichosis 12 MIM#615885
Tags
Red Red List (low evidence)
TCHH
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Uncombable hair syndrome 3, 617252
Tags

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