Description
Eligibility statement for Non-syndromic hypotrichosis (36849):

Non-syndromic hypotrichosis inclusion criteria (36865)
•	Generalised (not patchy) scalp hypotrichosis from 6 months of age or earlier with no improvement, AND
•	Patient older than three years

Non-syndromic hypotrichosis exclusion criteria (36865)
•	Patchy hypotrichosis
•	Patchy or episodic regrowth
•	Syndromic congenital hypotrichosis including ectodermal dysplasias, alopecia with vitamin D resistant rickets, hypotrichosis with dysmorphic facies, hypotrichosis with spondyloepimetaphyseal dysplasia

Prior genetic testing guidance (36865)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Non-syndromic hypotrichosis prior genetic testing genes (36865)
No genes listed

Closing statement (36865)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Celia Moss (Birmingham Children's Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

11 Entities

11 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
APCDD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Hypotrichosis 1
  • non-syndromic hereditary hypotrichosis
  • Hypotrichosis 1, 605389
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hypotrichosis simplex of the scalp
  • Hypotrichosis 2, 146520
  • HYPT2
Tags
Green Green List (high evidence)
DSG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • HYPT6
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
Tags
  • deletions
Green Green List (high evidence)
HR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis 4, 146550
  • HYPT4
  • Marie Unna hereditary hypotrichosis 1 (MUHH1)
  • Marie Unna hereditary hypotrichosis (MUHH)
Tags
  • curated-variant-list
  • non-coding-known-pathogenic
  • promoter
Green Green List (high evidence)
KRT74
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hypotrichosis simplex of the scalp
  • Hypotrichosis 3, 613981
  • HYPT3
Tags
Green Green List (high evidence)
LIPH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • localized autosomal recessive hypotrichosis-2 (LAH2)
  • Autosomal recessive hypotrichosis
  • Hypotrichosis 7, 604379
  • HYPT7
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Tags
  • deletions
Green Green List (high evidence)
LPAR6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis 8, 278150
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • localized autosomal recessive hypotrichosis-3 (LAH3)
  • Autosomal recessive hypotrichosis
  • Hypotrichosis 8
  • HYPT8
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
Tags
Amber Amber List (moderate evidence)
SNRPE
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis 11, 615059
  • HYPT11
Tags
Red Red List (low evidence)
DSC3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
Tags
Red Red List (low evidence)
KRT71
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Hypotrichosis 13, 615896
  • HYPT13
  • woolly hair
  • hypotrichosis
Tags
Red Red List (low evidence)
RPL21
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • HYPT12
  • Hypotrichosis 12, 615885
Tags

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