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  3. APCDD1
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Ectodermal dysplasia

Gene: APCDD1

Green List (high evidence)
APCDD1 (APC down-regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000154856
EnsemblGeneIds (GRCh37): ENSG00000154856
OMIM: 607479, Gene2Phenotype
APCDD1 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 1 expert review plus 3 unrelated cases (Pakistani, Italian and Chinese families) of Hereditary hypotrichosis simplex (OMIM:605389).
Created: 24 Jan 2017, 2:49 p.m.
In affected members of a large 5-generation Chinese family segregating hypotrichosis simplex, Li et al. (2012, PMID: 22512811) identified heterozygosity for the L9R mutation.
Created: 23 Jan 2017, 4:17 p.m.
In 2 Pakistani and 1 Italian family with autosomal dominant hypotrichosis simplex (HYPT1, OMIM:605389), Shimomura et al. (2010, PMID:20393562) identified a heterozygous 26T-G transversion in APCDD1 (L9R substitution).
Created: 23 Jan 2017, 4:16 p.m.
Created: 23 Jan 2017, 4:17 p.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.17

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Only two reports. The hair is said to be normal at birth so although this is a form of non-syndromic hypotrichosis it is not congenital.
Created: 20 Jan 2017, 4:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 20 Jan 2017, 4:35 p.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 1
  • non-syndromic hereditary hypotrichosis
  • Hypotrichosis 1, 605389
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
OMIM
607479
Clinvar variants
Variants in APCDD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: APCDD1 was added gene: APCDD1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APCDD1 were set to 20393562; 22512811 Phenotypes for gene: APCDD1 were set to Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)