Non-syndromic hypotrichosis
Gene: APCDD1EnsemblGeneIds (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.
Celia Moss (Birmingham Children's Hospital)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- Hereditary hypotrichosis simplex (HHS)
- Hypotrichosis simplex (HS)
- Hypotrichosis 1
- non-syndromic hereditary hypotrichosis
- Hypotrichosis 1, 605389
- OMIM
- 607479
- Clinvar variants
- Variants in APCDD1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for APCDD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene APCDD1 were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389
Added New Source
Rebecca Foulger (Genomics England curator)APCDD1 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
Created
Rebecca Foulger (Genomics England curator)APCDD1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)APCDD1 was added to Non-syndromic hypotrichosispanel. Sources: Other