Familial cicatricial alopecia
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Changed rating from Red to Grey: congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel.Created: 11 Jul 2017, 8:37 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Palmoplantar keratoderma with congenital alopecia, OMIM:104100
- Tags
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Glaucoma (developmental)
- Limb disorders
- Structural eye disease
- Rare genetic inflammatory skin disorders
- Fetal anomalies
- Palmoplantar keratodermas
- Clefting
- Pigmentary skin disorders
- Familial non syndromic congenital heart disease
- Primary lymphoedema
- Inherited white matter disorders
- Corneal abnormalities
- Mosaic skin disorders - deep sequencing
- Adult onset leukodystrophy
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Monogenic hearing loss
- Familial cicatricial alopecia
- Childhood onset hereditary spastic paraplegia
- Ichthyosis and erythrokeratoderma
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, 104100 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: GJA1.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been removed from the panel.
Created
Rebecca Foulger (Genomics England curator)GJA1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)GJA1 was added to Familial cicatricial alopeciapanel. Sources: Radboud University Medical Center, Nijmegen