Ectodermal dysplasiaGene: RPL21
Comment when marking as ready: Currently insufficient evidence to promote to Green.
Created: 26 Jan 2017, 1:23 p.m.
Comment on list classification: Kept rating as Red: Only 2 cases of RPL21 mutations reported in 2011 (PMID:21412954).
Created: 24 Jan 2017, 4:39 p.m.
Reported in 2 large Chinese families 5-6 years ago. Rather surprising that nobody else has reported it since then.
Created: 21 Jan 2017, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: RPL21 was added gene: RPL21 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL21 were set to 21412954 Phenotypes for gene: RPL21 were set to HYPT12; Hypotrichosis 12, 615885; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)