Ectodermal dysplasia without a known gene mutation
Gene: KREMEN1
KREMEN1 (kringle containing transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000183762
EnsemblGeneIds (GRCh37): ENSG00000183762
OMIM: 609898, Gene2Phenotype
KREMEN1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000183762
EnsemblGeneIds (GRCh37): ENSG00000183762
OMIM: 609898, Gene2Phenotype
KREMEN1 is in 2 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating as red until more (unrelated) cases are reported.Created: 11 May 2017, 2:06 p.m.
In affected individuals from 4 consanguineous Palestinian families with ectodermal dysplasia of the hair/tooth type (MIM:617392), Issa et al. (2016, PMID:27049303) identified homozygosity for a c.626T-C transition in the KREMEN1 gene, resulting in a F209S substitution.Created: 11 May 2017, 2:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 13, hair/tooth type, 617392
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Ectodermal dysplasia 13, hair/tooth type, 617392
- OMIM
- 609898
- Clinvar variants
- Variants in KREMEN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 May 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)KREMEN1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Other
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)KREMEN1 was created by rfoulger