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  3. KREMEN1
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Ectodermal dysplasia

Gene: KREMEN1

Amber List (moderate evidence)
KREMEN1 (kringle containing transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000183762
EnsemblGeneIds (GRCh37): ENSG00000183762
OMIM: 609898, Gene2Phenotype
KREMEN1 is in 2 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Changed rating to Amber as additional family with ED identified in literature by external reviewer.
Created: 12 May 2020, 8:36 a.m. | Last Modified: 12 May 2020, 8:36 a.m.
Panel Version: 1.6
Created: 12 May 2020, 8:36 a.m.
Last Modified: 12 May 2020, 8:36 a.m.
Panel version: 1.6

Zornitza Stark (Australian Genomics)

I don't know

Additional family reported.
Created: 12 Mar 2020, 3:11 a.m. | Last Modified: 12 Mar 2020, 3:11 a.m.
Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 13, hair/tooth type, 617392

Publications

Created: 12 Mar 2020, 3:11 a.m.
Last Modified: 12 Mar 2020, 3:11 a.m.
Panel version: 1.4

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

Created: 11 May 2017, 2:04 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 1.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type, 617392
OMIM
609898
Clinvar variants
Variants in KREMEN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: kremen1 has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: KREMEN1 were set to 27049303

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KREMEN1 was added gene: KREMEN1 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KREMEN1 were set to 27049303 Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392