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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 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Created: 31 Jul 2020, 12:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 13, hair/tooth type MIM#617392

Publications

Created: 31 Jul 2020, 12:33 a.m.

Panel version: Imported from Mendeliome panel version 0.3618

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four consanguineous Palestinian families reported (same founder missense variant) plus another unrelated family.
Created: 12 Mar 2020, 3:12 a.m. | Last Modified: 12 Mar 2020, 3:12 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 13, hair/tooth type, 617392

Publications

Created: 12 Mar 2020, 3:12 a.m.
Last Modified: 12 Mar 2020, 3:12 a.m.
Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Royal Melbourne Hospital
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 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KREMEN1 were set to

12 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KREMEN1 was added gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392